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Article ; Online: Feasibility of Full-Right/Full-Left Split-Liver Transplant in Pediatric Deceased Donors for Pediatric Recipients.

Zidan, Ahmed / Aljudaibi, Sultan / Wali, Nizar / Sturdevant, Mark / Shagrani, Mohammed / Algoufi, Talal / Broering, Dieter C

Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation

2021 Volume 19, Issue 3, Page(s) 273–275

Abstract: This case report describes the first ex situ full-right/full-left splitting of a liver from a pediatric deceased donor in the Middle East with an excellent outcome for both recipients. The left lateral split-liver transplant requires division of the ... ...

Abstract	This case report describes the first ex situ full-right/full-left splitting of a liver from a pediatric deceased donor in the Middle East with an excellent outcome for both recipients. The left lateral split-liver transplant requires division of the deceased donor liver into a left lateral lobe for a pediatric recipient and an extended right lobe for an adult recipient, thus producing only 1 graft for a pediatric recipient. Full-right/full-left liver transplant, which splits the liver along the line of Cantlie, is a much more complex and challenging surgery, even though the technique is fully developed, and is theoretically able to produce 2 sizeable grafts for 2 pediatric recipients. However, the full-right/full-left liver transplant remains limited because of the small vascular structures and therefore was not recommended and was not previously described in the literature.
MeSH term(s)	Child ; Feasibility Studies ; Female ; Humans ; Infant ; Liver/diagnostic imaging ; Liver/surgery ; Liver Transplantation/methods ; Middle East
Language	English
Publishing date	2021-02-19
Publishing country	Turkey
Document type	Case Reports ; Journal Article
ZDB-ID	2396778-X
ISSN	2146-8427 ; 1304-0855
ISSN (online)	2146-8427
ISSN	1304-0855
DOI	10.6002/ect.2020.0390
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Zs.A 6632: Show issues

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Article ; Online: Coronavirus disease 2019 vaccine in pediatric post-kidney transplantation.

Ajlan, Aziza A / Aleid, Hassan / Ali, Tariq / DeVol, Edward / Marquez, Kris Ann Hervera / Aldhaferi, Rezqah / Karar, Enaam Magzoub / Mohammed, Amir Eltayeb Ismail / Tiba, Majid / Fajji, Layal / Aldakhil, Haifa / Al-Awwami, Moheeb / Almslam, Maha Saud / Assiri, Abdallah / Algoufi, Talal / Broering, Dieter C

Clinical transplantation

2023 Volume 37, Issue 6, Page(s) e14983

Abstract: Background: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections and the resulting disease, coronavirus disease 2019 (COVID-19), have spread to millions of persons worldwide. Many vaccines have been developed; however, their efficacy ... ...

Abstract	Background: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections and the resulting disease, coronavirus disease 2019 (COVID-19), have spread to millions of persons worldwide. Many vaccines have been developed; however, their efficacy in pediatric solid organ transplant recipients is yet to be determined. Methods: This is a prospective observational, non-interventional single-center study on the safety and efficacy of a COVID-19 vaccine (BNT162b2) in pediatric kidney transplant recipients. The primary aim of this study was to evaluate immunogenicity according to SARS-CoV-2-specific neutralizing antibody titer after two vaccine doses. The secondary aims were to investigate the safety of the vaccines, solicited local and systemic adverse reactions, incidence of COVID-19 post-vaccination, and effects on transplant graft function. Baseline investigations were conducted on pediatric renal transplant recipients, and recruited participants were advised to have the Comirnaty® mRNA vaccine according to protocol. Results: A total of 48 patients (male, n = 31, 64.6%; female, n = 17, 35.4%), median age 14 [12-16] years were included, and all received two doses of the vaccine. The vaccine had a favorable safety and side-effect profile. The S-antibody titer of all patients ranged between .4 and 2,500 U/ml and was > 50 U/ml in 89% of the patients. No difference in the measured antibody immune response was noted between infected and uninfected children. No major side effects were reported. Conclusion: The vaccine had a favorable safety profile in 12- to 15-year-old kidney transplant recipients, producing a greater measured antibody response than that in older transplant recipients.
MeSH term(s)	Adolescent ; Child ; Female ; Humans ; Male ; Antibodies, Viral ; BNT162 Vaccine/adverse effects ; COVID-19/prevention & control ; COVID-19 Vaccines/adverse effects ; Kidney Transplantation ; SARS-CoV-2 ; Transplant Recipients
Chemical Substances	Antibodies, Viral ; BNT162 Vaccine ; COVID-19 Vaccines
Language	English
Publishing date	2023-04-07
Publishing country	Denmark
Document type	Observational Study ; Journal Article
ZDB-ID	639001-8
ISSN	1399-0012 ; 0902-0063
ISSN (online)	1399-0012
ISSN	0902-0063
DOI	10.1111/ctr.14983
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Zs.A 2204: Show issues

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Article ; Online: Safety and Feasibility Report of Robotic-assisted Left Lateral Sectionectomy for Pediatric Living Donor Liver Transplantation: A Comparative Analysis of Learning Curves and Mastery Achieved With the Laparoscopic Approach.

Troisi, Roberto I / Elsheikh, Yasser / Alnemary, Yasir / Zidan, Ahmed / Sturdevant, Mark / Alabbad, Saleh / Algoufi, Talal / Shagrani, Mohammed / Broering, Dieter C

Transplantation

2020 Volume 105, Issue 5, Page(s) 1044–1051

Abstract: Background: There is a growing interest in left lateral sectionectomy for donor hepatectomy. No data are available concerning the safety of the robotic (ROB) approach.: Methods: A retrospective comparative study was conducted on 75 consecutive ... ...

Abstract	Background: There is a growing interest in left lateral sectionectomy for donor hepatectomy. No data are available concerning the safety of the robotic (ROB) approach. Methods: A retrospective comparative study was conducted on 75 consecutive minimally invasive donor hepatectomies. The first 25 ROB procedures performed from November 2018 to July 2019 were compared with our first (LAP1) and last 25 (LAP2) laparoscopic cases performed between May 2013 and October 2018. Short-term donors and recipients' outcomes were analyzed. Results: No conversions were noticed in ROB whereas 2 conversions (8%) were recorded in LAP1 and none in LAP2. Blood loss was significantly less in ROB compared with LAP1 (P ≤ 0.001) but not in LAP2. Warm ischemia time was longer in ROB (P ≤ 0.001) with respect to the other groups. Operative time was similar in the 3 groups (P = 0.080); however, the hospital stay was shorter in ROB (P = 0.048). The trend in operative time in ROB was significantly shorter compared to LAP1 and LAP2: linear R2 0.478, P≤0.001; R2 0.012, P = 0.596; R3 0.004, P = 0.772, respectively. Donor morbidity was nihil in ROB, similar in LAP1 and LAP2 (n=3%-12%; P = 0.196). ROB procedures required less postoperative analgesia (P = 0.002). Recipient complications were similar for all groups (P = 0.274), and no early retransplantations were recorded. Conclusions: Robotic left lateral sectionectomy for donor hepatectomy is a safe procedure with results comparable to the laparoscopy in terms of donor morbidity and overall recipients' outcome when the procedure is performed by experts. Certainly, its use is currently very limited.
MeSH term(s)	Age Factors ; Clinical Competence ; Feasibility Studies ; Hepatectomy/adverse effects ; Humans ; Laparoscopy ; Learning Curve ; Length of Stay ; Liver Transplantation/adverse effects ; Living Donors ; Operative Time ; Postoperative Complications/etiology ; Retrospective Studies ; Risk Assessment ; Risk Factors ; Robotic Surgical Procedures/adverse effects ; Time Factors ; Treatment Outcome
Language	English
Publishing date	2020-07-07
Publishing country	United States
Document type	Comparative Study ; Journal Article
ZDB-ID	208424-7
ISSN	1534-6080 ; 0041-1337
ISSN (online)	1534-6080
ISSN	0041-1337
DOI	10.1097/TP.0000000000003332
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Zs.A 488: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MO 509: Show issues

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Article ; Online: Large for size in pediatrics liver transplant using left lateral segment grafts: A single center experience.

Zakaria, Hazem Mohamed / Alobthani, Salah / Elsarawy, Ahmed / Saleh, Yahia / Zidan, Ahmed / Alabbad, Saleh / Elsheikh, Yasser / Algoufi, Talal / Shagrani, Mohammad / Troisi, Roberto Ivan / Broering, Dieter

Pediatric transplantation

2021 Volume 25, Issue 6, Page(s) e14044

Abstract: Background: There are still controversies in using the large left lateral segment in pediatrics LT, with the possibility of the problem of LFS grafts, and the use of monosegmental or reduced liver grafts in small infants. This study aimed to evaluate ... ...

Abstract	Background: There are still controversies in using the large left lateral segment in pediatrics LT, with the possibility of the problem of LFS grafts, and the use of monosegmental or reduced liver grafts in small infants. This study aimed to evaluate our experience with LFSG in pediatrics LT. Methods: A cohort retrospective analysis was conducted including pediatric recipients who underwent LT between January 2011 and October 2019. We compared recipients with GRWR ≥ 4% (LFS) vs GRWR < 4% as an average for size grafts. Results: There were 331 pediatric LT, 74 patients with GRWR ≥ 4%, and 257 patients with GRWR < 4%. In the group of LFS grafts, temporary abdominal closure by silicon patch was done in 39 patients (52.7%), 2 patients (2.7%) had postoperative HAT, 3 patients (4.1%) early PVT, 1 patient (1.3%) bile leak, and 3 patients (4.1%) had wound infection, with no significant difference in these complications between the 2 groups. In patients with LFS- grafts, the 1-, 3-, 5-, and 7-year patients survival rates were 94.6%, 91.7%, 91.7%, and 91.7%, respectively, while the survival rates in patients of the other group were 96.1%, 92.6%, 91.9%, and 91.9%, respectively, with no significant difference (p = .85). Conclusion: Using LFS graft by left lateral segment in pediatric LT with potential delayed abdominal closure is a safe and feasible option with good outcomes and unnecessary need for graft reduction if performed by an experienced multidisciplinary team.
MeSH term(s)	Child ; Child, Preschool ; Female ; Graft Survival ; Humans ; Infant ; Liver/anatomy & histology ; Liver Transplantation ; Male ; Organ Size ; Postoperative Complications ; Retrospective Studies
Language	English
Publishing date	2021-06-02
Publishing country	Denmark
Document type	Journal Article
ZDB-ID	1390284-2
ISSN	1399-3046 ; 1397-3142
ISSN (online)	1399-3046
ISSN	1397-3142
DOI	10.1111/petr.14044
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Zs.A 4947: Show issues

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Article ; Online: Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants.

Maddirevula, Sateesh / Alhebbi, Hamoud / Alqahtani, Awad / Algoufi, Talal / Alsaif, Hessa S / Ibrahim, Niema / Abdulwahab, Firdous / Barr, Mohammed / Alzaidan, Hamad / Almehaideb, Ali / AlSasi, Omai / Alhashem, Amal / Hussaini, Hussa Al- / Wali, Sami / Alkuraya, Fowzan S

Genetics in medicine : official journal of the American College of Medical Genetics

2018 Volume 21, Issue 5, Page(s) 1164–1172

Abstract: Purpose: Genetic testing in pediatric cholestasis can be very informative but genetic causes have not been fully characterized.: Methods: Exome sequencing and positional mapping in seven families with cholestatic liver disease and negative clinical ... ...

Abstract	Purpose: Genetic testing in pediatric cholestasis can be very informative but genetic causes have not been fully characterized. Methods: Exome sequencing and positional mapping in seven families with cholestatic liver disease and negative clinical testing for known disease genes. Results: KIF12, which encodes a microtubule motor protein with a tentative role in cell polarity, was found to harbor three homozygous likely deleterious variants in three families with sclerosing cholangitis. KIF12 expression is dependent on HNF-1β, deficiency which is known to cause bile duct dysmorphogenesis associated with loss of KIF12 expression. In another extended family, we mapped an apparently novel syndrome of sclerosing cholangitis, short stature, hypothyroidism, and abnormal tongue pigmentation in two cousins to a homozygous variant in PPM1F (POPX2), a regulator of kinesin-mediated ciliary transport. In the fifth family, a syndrome of normal gamma glutamyltransferase (GGT) cholestasis and hearing loss was found to segregate with a homozygous truncating variant in USP53, which encodes an interactor with TJP2. In the sixth family, we mapped a novel syndrome of transient neonatal cholestasis, intellectual disability, and short stature to a homozygous variant in LSR, an important regulator of liver development. In the last family of three affected siblings, a novel syndrome of intractable itching, hypercholanemia, short stature, and intellectual disability was mapped to a single locus that contains a homozygous truncating variant in WDR83OS (C19orf56), known to interact with ATP13A2 and BSEP. Conclusion: Our results expand the genetic heterogeneity of pediatric cholestatic liver disease and highlight the vulnerability of bile homeostasis to a wide range of molecular perturbations.
MeSH term(s)	Child ; Child, Preschool ; Cholestasis/genetics ; Chromosome Mapping/methods ; Family ; Female ; Genetic Variation/genetics ; Humans ; Infant ; Jaundice, Obstructive/genetics ; Kinesins/genetics ; Liver Diseases/diagnosis ; Liver Diseases/genetics ; Male ; Pedigree ; Phosphoprotein Phosphatases/genetics ; Receptors, Lipoprotein/genetics ; Saudi Arabia ; Transcription Factors ; Ubiquitin-Specific Proteases/genetics ; Whole Exome Sequencing/methods
Chemical Substances	KIF12 protein, human ; LSR protein, human ; Receptors, Lipoprotein ; Transcription Factors ; PPM1F protein, human (EC 3.1.3.16) ; Phosphoprotein Phosphatases (EC 3.1.3.16) ; USP53 protein, human (EC 3.4.19.12) ; Ubiquitin-Specific Proteases (EC 3.4.19.12) ; Kinesins (EC 3.6.4.4)
Language	English
Publishing date	2018-09-25
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1455352-1
ISSN	1530-0366 ; 1098-3600
ISSN (online)	1530-0366
ISSN	1098-3600
DOI	10.1038/s41436-018-0288-x
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Zs.A 5059: Show issues

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Article: Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update.

Maddirevula, Sateesh / Shamseldin, Hanan E / Sirr, Amy / AlAbdi, Lama / Lo, Russell S / Ewida, Nour / Al-Qahtani, Mashael / Hashem, Mais / Abdulwahab, Firdous / Aboyousef, Omar / Kaya, Namik / Monies, Dorota / Salem, May H / Al Harbi, Naffaa / Aldhalaan, Hesham M / Alzaidan, Hamad / Almanea, Hadeel M / Alsalamah, Abrar K / Al Mutairi, Fuad /

Ismail, Samira / Abdel-Salam, Ghada M H / Alhashem, Amal / Asery, Ali / Faqeih, Eissa / AlQassmi, Amal / Al-Hamoudi, Waleed / Algoufi, Talal / Shagrani, Mohammad / Dudley, Aimée M / Alkuraya, Fowzan S

Frontiers in genetics

2020 Volume 11, Page(s) 580484

Abstract: There is a growing interest in standardizing gene-disease associations for the purpose of facilitating the proper classification of variants in the context of Mendelian diseases. One key line of evidence is the independent observation of pathogenic ... ...

Abstract	There is a growing interest in standardizing gene-disease associations for the purpose of facilitating the proper classification of variants in the context of Mendelian diseases. One key line of evidence is the independent observation of pathogenic variants in unrelated individuals with similar phenotypes. Here, we expand on our previous effort to exploit the power of autozygosity to produce homozygous pathogenic variants that are otherwise very difficult to encounter in the homozygous state due to their rarity. The identification of such variants in genes with only tentative associations to Mendelian diseases can add to the existing evidence when observed in the context of compatible phenotypes. In this study, we report 20 homozygous variants in 18 genes (
Language	English
Publishing date	2020-12-31
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2606823-0
ISSN	1664-8021
ISSN	1664-8021
DOI	10.3389/fgene.2020.580484
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Article ; Online: Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.

Human genetics

2016 Volume 136, Issue 2, Page(s) 205–225

Abstract: Pediatric cataract is highly heterogeneous clinically and etiologically. While mostly isolated, cataract can be part of many multisystem disorders, further complicating the diagnostic process. In this study, we applied genomic tools in the form of a ... ...

Abstract	Pediatric cataract is highly heterogeneous clinically and etiologically. While mostly isolated, cataract can be part of many multisystem disorders, further complicating the diagnostic process. In this study, we applied genomic tools in the form of a multi-gene panel as well as whole-exome sequencing on unselected cohort of pediatric cataract (166 patients from 74 families). Mutations in previously reported cataract genes were identified in 58% for a total of 43 mutations, including 15 that are novel. GEMIN4 was independently mutated in families with a syndrome of cataract, global developmental delay with or without renal involvement. We also highlight a recognizable syndrome that resembles galactosemia (a fulminant infantile liver disease with cataract) caused by biallelic mutations in CYP51A1. A founder mutation in RIC1 (KIAA1432) was identified in patients with cataract, brain atrophy, microcephaly with or without cleft lip and palate. For non-syndromic pediatric cataract, we map a novel locus in a multiplex consanguineous family on 4p15.32 where exome sequencing revealed a homozygous truncating mutation in TAPT1. We report two further candidates that are biallelically inactivated each in a single cataract family: TAF1A (cataract with global developmental delay) and WDR87 (non-syndromic cataract). In addition to positional mapping data, we use iSyTE developmental lens expression and gene-network analysis to corroborate the proposed link between the novel candidate genes and cataract. Our study expands the phenotypic, allelic and locus heterogeneity of pediatric cataract. The high diagnostic yield of clinical genomics supports the adoption of this approach in this patient group.
MeSH term(s)	Alleles ; Animals ; Carrier Proteins/genetics ; Cataract/diagnosis ; Cataract/genetics ; Child ; Chromosome Mapping ; Cleft Lip/genetics ; Gene Expression Regulation ; Genetic Loci ; Genomics ; Homozygote ; Humans ; Membrane Proteins/genetics ; Mice ; Mice, Knockout ; Microcephaly/genetics ; Phenotype ; Pol1 Transcription Initiation Complex Proteins/genetics ; Protein Interaction Mapping ; Sequence Analysis, DNA ; Sterol 14-Demethylase/genetics
Chemical Substances	CYP51A1 protein, human ; Carrier Proteins ; Membrane Proteins ; Pol1 Transcription Initiation Complex Proteins ; RIC1 protein, human ; TAF1A protein, human ; TAPT1 protein, mouse ; Taf1a protein, mouse ; Sterol 14-Demethylase (EC 1.14.13.70)
Language	English
Publishing date	2016-11-22
Publishing country	Germany
Document type	Journal Article
ZDB-ID	223009-4
ISSN	1432-1203 ; 0340-6717
ISSN (online)	1432-1203
ISSN	0340-6717
DOI	10.1007/s00439-016-1747-6
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Zs.A 256: Show issues

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Article ; Online: Genotype correlates with the natural history of severe bile salt export pump deficiency.

van Wessel, Daan B E / Thompson, Richard J / Gonzales, Emmanuel / Jankowska, Irena / Sokal, Etienne / Grammatikopoulos, Tassos / Kadaristiana, Agustina / Jacquemin, Emmanuel / Spraul, Anne / Lipiński, Patryk / Czubkowski, Piotr / Rock, Nathalie / Shagrani, Mohammad / Broering, Dieter / Algoufi, Talal / Mazhar, Nejat / Nicastro, Emanuele / Kelly, Deirdre A / Nebbia, Gabriella /

Arnell, Henrik / Björn Fischler / Hulscher, Jan B F / Serranti, Daniele / Arikan, Cigdem / Polat, Esra / Debray, Dominique / Lacaille, Florence / Goncalves, Cristina / Hierro, Loreto / Muñoz Bartolo, Gema / Mozer-Glassberg, Yael / Azaz, Amer / Brecelj, Jernej / Dezsőfi, Antal / Calvo, Pier Luigi / Grabhorn, Enke / Sturm, Ekkehard / van der Woerd, Wendy J / Kamath, Binita M / Wang, Jian-She / Li, Liting / Durmaz, Özlem / Onal, Zerrin / Bunt, Ton M G / Hansen, Bettina E / Verkade, Henkjan J

Journal of hepatology

2020 Volume 73, Issue 1, Page(s) 84–93

Abstract: Background & aims: Mutations in ABCB11 can cause deficiency of the bile salt export pump (BSEP), leading to cholestasis and end-stage liver disease. Owing to the rarity of the disease, the associations between genotype and natural history, or outcomes ... ...

Abstract	Background & aims: Mutations in ABCB11 can cause deficiency of the bile salt export pump (BSEP), leading to cholestasis and end-stage liver disease. Owing to the rarity of the disease, the associations between genotype and natural history, or outcomes following surgical biliary diversion (SBD), remain elusive. We aimed to determine these associations by assembling the largest genetically defined cohort of patients with severe BSEP deficiency to date. Methods: This multicentre, retrospective cohort study included 264 patients with homozygous or compound heterozygous pathological ABCB11 mutations. Patients were categorized according to genotypic severity (BSEP1, BSEP2, BSEP3). The predicted residual BSEP transport function decreased with each category. Results: Genotype severity was strongly associated with native liver survival (NLS, BSEP1 median 20.4 years; BSEP2, 7.0 years; BSEP3, 3.5 years; p <0.001). At 15 years of age, the proportion of patients with hepatocellular carcinoma was 4% in BSEP1, 7% in BSEP2 and 34% in BSEP3 (p = 0.001). SBD was associated with significantly increased NLS (hazard ratio 0.50; 95% CI 0.27-0.94: p = 0.03) in BSEP1 and BSEP2. A serum bile acid concentration below 102 μmol/L or a decrease of at least 75%, each shortly after SBD, reliably predicted NLS of ≥15 years following SBD (each p <0.001). Conclusions: The genotype of severe BSEP deficiency strongly predicts long-term NLS, the risk of developing hepatocellular carcinoma, and the chance that SBD will increase NLS. Serum bile acid parameters shortly after SBD can predict long-term NLS. Lay summary: This study presents data from the largest genetically defined cohort of patients with severe bile salt export pump deficiency to date. The genotype of patients with severe bile salt export pump deficiency is associated with clinical outcomes and the success of therapeutic interventions. Therefore, genotypic data should be used to guide personalized clinical care throughout childhood and adulthood in patients with this disease.
MeSH term(s)	ATP Binding Cassette Transporter, Subfamily B, Member 11/deficiency ; ATP Binding Cassette Transporter, Subfamily B, Member 11/genetics ; Adult ; Bile Acids and Salts/blood ; Bile Acids and Salts/metabolism ; Biliary Tract Surgical Procedures/methods ; Biliary Tract Surgical Procedures/statistics & numerical data ; Carcinoma, Hepatocellular/diagnosis ; Carcinoma, Hepatocellular/prevention & control ; Child, Preschool ; Cholestasis, Intrahepatic/diagnosis ; Cholestasis, Intrahepatic/genetics ; Cholestasis, Intrahepatic/physiopathology ; Cholestasis, Intrahepatic/surgery ; Female ; Genetic Testing/methods ; Humans ; Liver Neoplasms/diagnosis ; Liver Neoplasms/prevention & control ; Male ; Mutation ; Predictive Value of Tests ; Prognosis ; Retrospective Studies ; Severity of Illness Index ; Survival Analysis ; Time
Chemical Substances	ABCB11 protein, human ; ATP Binding Cassette Transporter, Subfamily B, Member 11 ; Bile Acids and Salts
Language	English
Publishing date	2020-02-20
Publishing country	Netherlands
Document type	Journal Article ; Multicenter Study ; Research Support, Non-U.S. Gov't
ZDB-ID	605953-3
ISSN	1600-0641 ; 0168-8278
ISSN (online)	1600-0641
ISSN	0168-8278
DOI	10.1016/j.jhep.2020.02.007
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Zs.A 2027: Show issues

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Article ; Online: Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency.

van Wessel, Daan B E / Thompson, Richard J / Gonzales, Emmanuel / Jankowska, Irena / Shneider, Benjamin L / Sokal, Etienne / Grammatikopoulos, Tassos / Kadaristiana, Agustina / Jacquemin, Emmanuel / Spraul, Anne / Lipiński, Patryk / Czubkowski, Piotr / Rock, Nathalie / Shagrani, Mohammad / Broering, Dieter / Algoufi, Talal / Mazhar, Nejat / Nicastro, Emanuele / Kelly, Deirdre /

Nebbia, Gabriella / Arnell, Henrik / Fischler, Björn / Hulscher, Jan B F / Serranti, Daniele / Arikan, Cigdem / Debray, Dominique / Lacaille, Florence / Goncalves, Cristina / Hierro, Loreto / Muñoz Bartolo, Gema / Mozer-Glassberg, Yael / Azaz, Amer / Brecelj, Jernej / Dezsőfi, Antal / Luigi Calvo, Pier / Krebs-Schmitt, Dorothee / Hartleif, Steffen / van der Woerd, Wendy L / Wang, Jian-She / Li, Li-Ting / Durmaz, Özlem / Kerkar, Nanda / Hørby Jørgensen, Marianne / Fischer, Ryan / Jimenez-Rivera, Carolina / Alam, Seema / Cananzi, Mara / Laverdure, Noémie / Targa Ferreira, Cristina / Ordonez, Felipe / Wang, Heng / Sency, Valerie / Mo Kim, Kyung / Chen, Huey-Ling / Carvalho, Elisa / Fabre, Alexandre / Quintero Bernabeu, Jesus / Alonso, Estella M / Sokol, Ronald J / Suchy, Frederick J / Loomes, Kathleen M / McKiernan, Patrick J / Rosenthal, Philip / Turmelle, Yumirle / Rao, Girish S / Horslen, Simon / Kamath, Binita M / Rogalidou, Maria / Karnsakul, Wikrom W / Hansen, Bettina / Verkade, Henkjan J

Hepatology (Baltimore, Md.)

2021 Volume 74, Issue 2, Page(s) 892–906

Abstract: Background and aims: Mutations in ATPase phospholipid transporting 8B1 (ATP8B1) can lead to familial intrahepatic cholestasis type 1 (FIC1) deficiency, or progressive familial intrahepatic cholestasis type 1. The rarity of FIC1 deficiency has largely ... ...

Abstract	Background and aims: Mutations in ATPase phospholipid transporting 8B1 (ATP8B1) can lead to familial intrahepatic cholestasis type 1 (FIC1) deficiency, or progressive familial intrahepatic cholestasis type 1. The rarity of FIC1 deficiency has largely prevented a detailed analysis of its natural history, effects of predicted protein truncating mutations (PPTMs), and possible associations of serum bile acid (sBA) concentrations and surgical biliary diversion (SBD) with long-term outcome. We aimed to provide insights by using the largest genetically defined cohort of patients with FIC1 deficiency to date. Approach and results: This multicenter, combined retrospective and prospective study included 130 patients with compound heterozygous or homozygous predicted pathogenic ATP8B1 variants. Patients were categorized according to the number of PPTMs (i.e., splice site, frameshift due to deletion or insertion, nonsense, duplication), FIC1-A (n = 67; no PPTMs), FIC1-B (n = 29; one PPTM), or FIC1-C (n = 34; two PPTMs). Survival analysis showed an overall native liver survival (NLS) of 44% at age 18 years. NLS was comparable among FIC1-A, FIC1-B, and FIC1-C (% NLS at age 10 years: 67%, 41%, and 59%, respectively; P = 0.12), despite FIC1-C undergoing SBD less often (% SBD at age 10 years: 65%, 57%, and 45%, respectively; P = 0.03). sBAs at presentation were negatively associated with NLS (NLS at age 10 years, sBAs < 194 µmol/L: 49% vs. sBAs ≥ 194 µmol/L: 15%; P = 0.03). SBD decreased sBAs (230 [125-282] to 74 [11-177] μmol/L; P = 0.005). SBD (HR 0.55, 95% CI 0.28-1.03, P = 0.06) and post-SBD sBA concentrations < 65 μmol/L (P = 0.05) tended to be associated with improved NLS. Conclusions: Less than half of patients with FIC1 deficiency reach adulthood with native liver. The number of PPTMs did not associate with the natural history or prognosis of FIC1 deficiency. sBA concentrations at initial presentation and after SBD provide limited prognostic information on long-term NLS.
MeSH term(s)	Adenosine Triphosphatases/deficiency ; Adenosine Triphosphatases/genetics ; Adolescent ; Bile Acids and Salts/blood ; Bile Ducts, Intrahepatic/surgery ; Child ; Child, Preschool ; Cholestasis, Intrahepatic/blood ; Cholestasis, Intrahepatic/genetics ; Cholestasis, Intrahepatic/mortality ; Cholestasis, Intrahepatic/surgery ; Codon, Nonsense ; Female ; Follow-Up Studies ; Humans ; Infant ; Liver Transplantation/statistics & numerical data ; Male ; Prognosis ; Prospective Studies ; Retrospective Studies ; Risk Assessment/methods ; Risk Assessment/statistics & numerical data ; Survival Analysis ; Treatment Outcome ; Young Adult
Chemical Substances	Bile Acids and Salts ; Codon, Nonsense ; Adenosine Triphosphatases (EC 3.6.1.-) ; ATP8B1 protein, human (EC 3.6.1.3.)
Language	English
Publishing date	2021-07-13
Publishing country	United States
Document type	Journal Article ; Multicenter Study ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	604603-4
ISSN	1527-3350 ; 0270-9139
ISSN (online)	1527-3350
ISSN	0270-9139
DOI	10.1002/hep.31787
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Article ; Online: Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

Monies, Dorota / Abouelhoda, Mohammed / Assoum, Mirna / Moghrabi, Nabil / Rafiullah, Rafiullah / Almontashiri, Naif / Alowain, Mohammed / Alzaidan, Hamad / Alsayed, Moeen / Subhani, Shazia / Cupler, Edward / Faden, Maha / Alhashem, Amal / Qari, Alya / Chedrawi, Aziza / Aldhalaan, Hisham / Kurdi, Wesam / Khan, Sameena / Rahbeeni, Zuhair /

Alotaibi, Maha / Goljan, Ewa / Elbardisy, Hadeel / ElKalioby, Mohamed / Shah, Zeeshan / Alruwaili, Hibah / Jaafar, Amal / Albar, Ranad / Akilan, Asma / Tayeb, Hamsa / Tahir, Asma / Fawzy, Mohammed / Nasr, Mohammed / Makki, Shaza / Alfaifi, Abdullah / Akleh, Hanna / Yamani, Suad / Bubshait, Dalal / Mahnashi, Mohammed / Basha, Talal / Alsagheir, Afaf / Khaled, Musad Abu / Alsaleem, Khalid / Almugbel, Maisoon / Badawi, Manal / Bashiri, Fahad / Bohlega, Saeed / Sulaiman, Raashida / Tous, Ehab / Ahmed, Syed / Algoufi, Talal / Al-Mousa, Hamoud / Alaki, Emadia / Alhumaidi, Susan / Alghamdi, Hadeel / Alghamdi, Malak / Sahly, Ahmed / Nahrir, Shapar / Al-Ahmari, Ali / Alkuraya, Hisham / Almehaidib, Ali / Abanemai, Mohammed / Alsohaibaini, Fahad / Alsaud, Bandar / Arnaout, Rand / Abdel-Salam, Ghada M H / Aldhekri, Hasan / AlKhater, Suzan / Alqadi, Khalid / Alsabban, Essam / Alshareef, Turki / Awartani, Khalid / Banjar, Hanaa / Alsahan, Nada / Abosoudah, Ibraheem / Alashwal, Abdullah / Aldekhail, Wajeeh / Alhajjar, Sami / Al-Mayouf, Sulaiman / Alsemari, Abdulaziz / Alshuaibi, Walaa / Altala, Saeed / Altalhi, Abdulhadi / Baz, Salah / Hamad, Muddathir / Abalkhail, Tariq / Alenazi, Badi / Alkaff, Alya / Almohareb, Fahad / Al Mutairi, Fuad / Alsaleh, Mona / Alsonbul, Abdullah / Alzelaye, Somaya / Bahzad, Shakir / Manee, Abdulaziz Bin / Jarrad, Ola / Meriki, Neama / Albeirouti, Bassem / Alqasmi, Amal / AlBalwi, Mohammed / Makhseed, Nawal / Hassan, Saeed / Salih, Isam / Salih, Mustafa A / Shaheen, Marwan / Sermin, Saadeh / Shahrukh, Shamsad / Hashmi, Shahrukh / Shawli, Ayman / Tajuddin, Ameen / Tamim, Abdullah / Alnahari, Ahmed / Ghemlas, Ibrahim / Hussein, Maged / Wali, Sami / Murad, Hatem / Meyer, Brian F / Alkuraya, Fowzan S

American journal of human genetics

2019 Volume 105, Issue 4, Page(s) 879

Language	English
Publishing date	2019-10-04
Publishing country	United States
Document type	Published Erratum
ZDB-ID	219384-x
ISSN	1537-6605 ; 0002-9297
ISSN (online)	1537-6605
ISSN	0002-9297
DOI	10.1016/j.ajhg.2019.09.019
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