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Article ; Online: Correlation of X chromosome inactivation with clinical presentation of Fabry disease in a case report.

Rodríguez Doyágüez, Pablo / Furlano, Mónica / Ars Criach, Elisabet / Arce, Yolanda / Guirado, Lluís / Torra Balcells, Roser

Nefrologia

2024 Volume 43 Suppl 2, Page(s) 91–95

Abstract: Fabry disease or also called Anderson-Fabry disease (FD) is a rare disease caused by pathogenic variants in the GLA gene, located on the X chromosome. This gene is involved in the metabolism of glycosphingolipids and its pathogenic variants cause a ... ...

Abstract	Fabry disease or also called Anderson-Fabry disease (FD) is a rare disease caused by pathogenic variants in the GLA gene, located on the X chromosome. This gene is involved in the metabolism of glycosphingolipids and its pathogenic variants cause a deficit or absence of α-galactosidase A causing the deposition of globotriaosylceramide throughout the body. Females have a variable phenotypic expression and a better prognosis than males. This is due to the X chromosome inactivation phenomenon. We present a clinical case of Fabry disease in a female with predominantly renal involvement and demonstrate how the X chromosome inactivation phenomenon is tissue dependent, showing preferential inactivation of the mutated allele at the renal level.
MeSH term(s)	Male ; Female ; Humans ; Fabry Disease/genetics ; Fabry Disease/pathology ; X Chromosome Inactivation ; alpha-Galactosidase/genetics ; alpha-Galactosidase/metabolism ; Kidney/pathology ; Phenotype
Chemical Substances	alpha-Galactosidase (EC 3.2.1.22)
Language	English
Publishing date	2024-01-25
Publishing country	Spain
Document type	Case Reports
ZDB-ID	2837917-2
ISSN	2013-2514 ; 2013-2514
ISSN (online)	2013-2514
ISSN	2013-2514
DOI	10.1016/j.nefroe.2024.01.018
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Article ; Online: Molecular diagnosis of autosomal dominant polycystic kidney disease.

Torra Balcells, R / Ars Criach, E

Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia

2011 Volume 31, Issue 1, Page(s) 35–43

Abstract: Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited renal disorder. Its estimated prevalence is 1 per 800 individuals. ADPKD patients constitute 8% of the population on dialysis or kidney transplantation. The disease can be ... ...

Abstract	Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited renal disorder. Its estimated prevalence is 1 per 800 individuals. ADPKD patients constitute 8% of the population on dialysis or kidney transplantation. The disease can be diagnosed using radiological or genetic procedures. Direct genetic diagnosis of the disease can now be performed in Spain; however, it is not an easy or cheap test. This is why every case should be considered individually to determine whether genetic testing is appropriate, and to determine which genetic test is most adequate. Genetic testing in ADPKD is of special interest for living donors and neonatal and sporadic cases. Genetic testing offers the chance of performing prenatal or pre-implantation testing of embryos in families with severe cases of the disease. Also, this will enable the disease to be treated, when specific treatment becomes available, in cases that would not be candidates for treatment without genetic confirmation.
MeSH term(s)	Age of Onset ; DNA Mutational Analysis ; Databases, Genetic ; Diagnostic Imaging/economics ; Genetic Counseling ; Genetic Linkage ; Humans ; Molecular Diagnostic Techniques/economics ; Mosaicism ; Mutation ; Polycystic Kidney, Autosomal Dominant/diagnosis ; Polycystic Kidney, Autosomal Dominant/economics ; Polycystic Kidney, Autosomal Dominant/epidemiology ; Polycystic Kidney, Autosomal Dominant/genetics ; Preimplantation Diagnosis/economics ; Preimplantation Diagnosis/methods ; Prenatal Diagnosis/economics ; Prenatal Diagnosis/methods ; RNA, Messenger/genetics ; Spain ; TRPP Cation Channels/genetics
Chemical Substances	RNA, Messenger ; TRPP Cation Channels ; polycystic kidney disease 1 protein ; polycystic kidney disease 2 protein
Language	English
Publishing date	2011
Publishing country	Spain
Document type	Journal Article ; Review
ZDB-ID	632512-9
ISSN	1989-2284 ; 0211-6995
ISSN (online)	1989-2284
ISSN	0211-6995
DOI	10.3265/Nefrologia.pre2010.Nov.10727
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Zs.MO 56: Show issues

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Article ; Online: Creatine Kinase Elevation in Autosomal Dominant Polycystic Kidney Disease Patients on Tolvaptan Treatment.

Rodríguez-Espinosa, Diana / Broseta, José Jesús / Bastida, Carla / Álvarez-Mora, María Isabel / Nicolau, Carlos / Alvarez, Cristina / Agraz-Pamplona, Irene / Sánchez-Baya, Maya / Furlano, Mónica / Ruiz, César / Quintana, Luis F / Piñeiro, Gastón J / Poch, Esteban / Torra-Balcells, Roser / Blasco, Miquel

Nephron

2022 Volume 147, Issue 3-4, Page(s) 152–157

Abstract: Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary cause of end-stage kidney disease. Currently, tolvaptan is the only treatment that has proven to delay disease progression. The most notable side effect of ... ...

Abstract	Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary cause of end-stage kidney disease. Currently, tolvaptan is the only treatment that has proven to delay disease progression. The most notable side effect of this therapy is drug-induced liver injury; however, recently, there have been two reports of creatine kinase (CK) elevation in ADPKD patients on tolvaptan treatment. We set out to monitor and determine the actual incidence of CK elevation and evaluate its potential association with other clinical factors. Methods: This is an observational retrospective multicenter study performed in rapidly progressive ADPKD patients on tolvaptan treatment from Barcelona, Spain. Laboratory tests, demographics, treatment dose, and reported symptoms were collected from October 2018 to March 2021. Results: Ninety-five patients initiated tolvaptan treatment during follow-up. The medication had to be discontinued in 31 (32.6%) patients, primarily due to aquaretic effects (12.6%), elevated liver enzymes (8.4%), and symptomatic or persistently elevated CK levels (3.2%). Moreover, a total of 27 (28.4%) patients had elevated CK levels, with most of them being either transient (12.6%), mild and asymptomatic (4.2%), or resolved after dose reduction (3.2%) or temporary discontinuation (2.1%). Conclusion: We pre-sent the largest cohort that has monitored CK levels in a real-life setting, finding them elevated in 28.4% of patients. More research and monitoring will help us understand the clinical implications and the pathophysiological mechanism of CK elevation in this population.
MeSH term(s)	Humans ; Tolvaptan/therapeutic use ; Tolvaptan/adverse effects ; Polycystic Kidney, Autosomal Dominant/complications ; Antidiuretic Hormone Receptor Antagonists/adverse effects ; Kidney Failure, Chronic/complications ; Disease Progression ; Kidney
Chemical Substances	Tolvaptan (21G72T1950) ; Antidiuretic Hormone Receptor Antagonists
Language	English
Publishing date	2022-09-09
Publishing country	Switzerland
Document type	Observational Study ; Multicenter Study ; Journal Article
ZDB-ID	207121-6
ISSN	2235-3186 ; 1423-0186 ; 1660-8151 ; 0028-2766
ISSN (online)	2235-3186 ; 1423-0186
ISSN	1660-8151 ; 0028-2766
DOI	10.1159/000526368
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Zs.A 169: Show issues

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Article ; Online: A review on autosomal dominant tubulointerstitial kidney disease.

Ayasreh Fierro, Nadia / Miquel Rodríguez, Rosa / Matamala Gastón, Ana / Ars Criach, Elisabet / Torra Balcells, Roser

Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia

2017 Volume 37, Issue 3, Page(s) 235–243

Abstract: In recent years there has been a reclassification of hereditary tubulointerstitial renal diseases. The old concepts of nephronoptisis or medullary cystic disease have been reordered based on the discovery of new genes. The 2015 KDIGO guidelines proposed ... ...

Title translation	Revisión de la nefropatía tubulointersticial autosómica dominante.
Abstract	In recent years there has been a reclassification of hereditary tubulointerstitial renal diseases. The old concepts of nephronoptisis or medullary cystic disease have been reordered based on the discovery of new genes. The 2015 KDIGO guidelines proposed a unification of terminology, diagnostic criteria and monitoring. So far 4genes causing autosomal dominant tubulointerstitial kidney disease have been described: MUC1, UMOD, HNF1B and REN. Although the mutation in each of them causes distinctive features in how they present, all have in common the progressive tubulointerstitial damage and renal fibrosis. In this article, we present a review of the guidelines and the literature, and some practical recommendations for dealing with this disease.
Language	Spanish
Publishing date	2017-05
Publishing country	Spain
Document type	Journal Article
ZDB-ID	632512-9
ISSN	1989-2284 ; 0211-6995
ISSN (online)	1989-2284
ISSN	0211-6995
DOI	10.1016/j.nefro.2016.10.024
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Zs.MO 56: Show issues

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Article: Transportadores de sodio y aquaporinas: futuros biomarcadores renales?

Esteva-Font, Cristina / Torra Balcells, Roser / Fernández-Llama, Patricia

Medicina clinica

2007 Volume 129, Issue 11, Page(s) 433–437

Abstract: Renal sodium and water reabsorption is mediated by renal sodium transporters and water channels or aquaporins which are localized in the apical and basolateral membranes of tubular epithelial cells. The main apical sodium transporters and water channels ... ...

Title translation	Sodium transporters and aquaporins: future renal biomarkers?.
Abstract	Renal sodium and water reabsorption is mediated by renal sodium transporters and water channels or aquaporins which are localized in the apical and basolateral membranes of tubular epithelial cells. The main apical sodium transporters and water channels located along the nephron are: sodium-proton exchanger subtype 3 (NHE-3) which reabsorbs most of the sodium coming from the glomerular filtrate, sodium-phosphate type II cotransporter (NaPiII) and aquaporin-1, all of which are located in the proximal tubule; sodium-potassium-2 chloride cotransporter (NKCC2) which plays a key role in sodium reabsorption in the thick ascending limb; the sodium-chloride cotransporter (NCC) in the distal tubule; and the epithelial sodium channel (ENaC) and aquaporin-2 located in the collecting tubule. There are some experimental studies in which the role of these proteins has been associated with the pathophysiology of several sodium and water balance disorders. In humans, urine is the perfect source to obtain biomarkers useful for the diagnosis of kidney diseases and the assessment of disease progression without the use of invasive procedures. Thus, some of the renal sodium transporters or the aquaporins located in the apical membrane which are excreted in the tubular lumen and detected in urine could become biomarkers of some sodium and water balance disorders. Nowadays there are many studies investigating the role of these proteins in humans in clinical settings.
MeSH term(s)	Aquaporins/metabolism ; Biomarkers/metabolism ; Humans ; Kidney/metabolism ; Membrane Transport Proteins/metabolism ; Sodium/metabolism
Chemical Substances	Aquaporins ; Biomarkers ; Membrane Transport Proteins ; Sodium (9NEZ333N27)
Language	Spanish
Publishing date	2007-01-11
Publishing country	Spain
Document type	English Abstract ; Journal Article ; Review
ZDB-ID	411607-0
ISSN	1578-8989 ; 0025-7753
ISSN (online)	1578-8989
ISSN	0025-7753
DOI	10.1157/13110477
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Article ; Online: Effects of rapamycin on angiomyolipomas in patients with tuberous sclerosis.

Cabrera López, Cristina / Martí, Teresa / Catalá, Violeta / Torres, Ferrán / Mateu, Silvia / Ballarín Castán, Jose / Torra Balcells, Roser

Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia

2011 Volume 31, Issue 3, Page(s) 292–298

Abstract: Background: Tuberous sclerosis (TS) is a systemic disease, with an autosomal dominant pattern of inheritance caused by mutations in two genes (TSC1 and TSC2) that cause tumours (angiomyolipomas [AML], angiofibromas, astrocytomas). Constant and ... ...

Abstract	Background: Tuberous sclerosis (TS) is a systemic disease, with an autosomal dominant pattern of inheritance caused by mutations in two genes (TSC1 and TSC2) that cause tumours (angiomyolipomas [AML], angiofibromas, astrocytomas). Constant and inadequate proliferation occurring in TS may be blocked by mTOR inhibitors (mammalian target of rapamycin), such as rapamycin. Material and methods: At present, our study includes 17 patients with TS. All had at least one AML greater than 2cm in diameter diagnosed by MRI. They received rapamycin during 12 months. Plasma levels remained stable between 4-8ng/dl. The AML size was monitored every six months by abdominal MRI. Results: At 12 months of inclusion, MRI indicated a decrease in the size of AML in all patients showing at least a 50% reduction in 82.4% (14/17, 95% CI [56.57%, 96.20%]). The mean percent reduction was 66.3% (95% CI [56.9%, 75.6%], P<.0001). The major side effects observed were: oral aphthous ulcers (5/17); hypertriglyceridemia (3/17); microcytosis and hypochromia (3/17); diarrhea (2/17); acne (1/17); acute pyelonephritis (1/17); and proteinuria (1/17). Conclusions: These preliminary clinical data suggest that rapamycin can play a beneficial role in the treatment of TS. Our experience in 17 patients treated for 12 months demonstrates safety and efficacy in reducing AML volume.
MeSH term(s)	Adolescent ; Angiomyolipoma/drug therapy ; Angiomyolipoma/etiology ; Antibiotics, Antineoplastic/therapeutic use ; Child ; Female ; Humans ; Male ; Sirolimus/therapeutic use ; Tuberous Sclerosis/complications ; Tuberous Sclerosis/drug therapy ; Young Adult
Chemical Substances	Antibiotics, Antineoplastic ; Sirolimus (W36ZG6FT64)
Language	Spanish
Publishing date	2011
Publishing country	Spain
Document type	Clinical Trial, Phase IV ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	632512-9
ISSN	1989-2284 ; 0211-6995
ISSN (online)	1989-2284
ISSN	0211-6995
DOI	10.3265/Nefrologia.pre2011.Apr.10812
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Article ; Online: Acute renal failure associated to paroxysmal nocturnal haemoglobinuria leads to intratubular haemosiderin accumulation and CD163 expression.

Ballarín, José / Arce, Yolanda / Torra Balcells, Roser / Diaz Encarnación, Montserrat / Manzarbeitia, Felix / Ortiz, Alberto / Egido, Jesús / Moreno, Juan Antonio

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

2011 Volume 26, Issue 10, Page(s) 3408–3411

Abstract: Decreased renal function has been observed in diseases with intravascular haemolysis, including paroxysmal nocturnal haemoglobinuria (PNH). However, the mechanisms via which haemoglobin enhances renal damage in this pathology are not fully known. We ... ...

Abstract	Decreased renal function has been observed in diseases with intravascular haemolysis, including paroxysmal nocturnal haemoglobinuria (PNH). However, the mechanisms via which haemoglobin enhances renal damage in this pathology are not fully known. We report a case of acute renal failure associated to PNH and extensive haemosiderin deposits in tubular cells. Renal biopsy also revealed a strong immunostaining of CD163 (a haemoglobin scavenger receptor expressed in macrophages) and oxidative stress markers (NADPH-p22 phox and haeme oxigenase-1) in areas with deposits of iron. This fact provides evidence for a pathogenic role for free haemoglobin in tubulointerstitial renal injury in human PNH disease.
MeSH term(s)	Acute Kidney Injury/complications ; Adult ; Antigens, CD/metabolism ; Antigens, Differentiation, Myelomonocytic/metabolism ; Biomarkers/metabolism ; Heme Oxygenase-1/metabolism ; Hemoglobins/metabolism ; Hemoglobinuria, Paroxysmal/diagnosis ; Hemoglobinuria, Paroxysmal/etiology ; Hemosiderin/metabolism ; Humans ; Immunoenzyme Techniques ; Iron/metabolism ; Kidney Tubules/physiopathology ; Macrophages/metabolism ; Male ; NADP/metabolism ; NADPH Oxidases/metabolism ; Receptors, Cell Surface/metabolism ; Young Adult
Chemical Substances	Antigens, CD ; Antigens, Differentiation, Myelomonocytic ; Biomarkers ; CD163 antigen ; Hemoglobins ; Receptors, Cell Surface ; NADP (53-59-8) ; Hemosiderin (9011-92-1) ; Iron (E1UOL152H7) ; Heme Oxygenase-1 (EC 1.14.14.18) ; NADPH Oxidases (EC 1.6.3.-) ; CYBA protein, human (EC 1.6.3.1)
Language	English
Publishing date	2011-10
Publishing country	England
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	90594-x
ISSN	1460-2385 ; 0931-0509
ISSN (online)	1460-2385
ISSN	0931-0509
DOI	10.1093/ndt/gfr391
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Zs.A 2198: 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 329: Show issues

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Article ; Online: Familial chronic interstitial nephropathy with hyperuricaemia caused by the UMOD gene.

Ayasreh-Fierro, Nadia / Ars-Criach, Elisabet / Lopes-Martín, Vanesa / Arce-Terroba, Yolanda / Ruiz-del Prado, Patricia / Ballarín-Castán, José / Torra-Balcells, Roser

Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia

2013 Volume 33, Issue 4, Page(s) 587–592

MeSH term(s)	Humans ; Hyperuricemia/etiology ; Hyperuricemia/genetics ; Male ; Nephritis, Interstitial/complications ; Nephritis, Interstitial/genetics ; Pedigree ; Uromodulin/genetics ; Young Adult
Chemical Substances	UMOD protein, human ; Uromodulin
Language	Spanish
Publishing date	2013
Publishing country	Spain
Document type	Case Reports ; Journal Article ; Review
ZDB-ID	632512-9
ISSN	1989-2284 ; 0211-6995
ISSN (online)	1989-2284
ISSN	0211-6995
DOI	10.3265/Nefrologia.pre2013.Apr.11960
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