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Article ; Online: Genetic Analysis in Kidney Disease: Advancing Clinical Diagnosis and Research Discovery.

Besse, Whitney

Kidney360

2020 Volume 1, Issue 8, Page(s) 720–723

MeSH term(s)	Genetic Testing ; Humans ; Kidney Diseases/diagnosis
Language	English
Publishing date	2020-08-27
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ISSN	2641-7650
ISSN (online)	2641-7650
DOI	10.34067/kid.0003632020
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Article ; Online: A Practical Guide to Genetic Testing for Kidney Disorders of Unknown Etiology.

Aron, Abraham W / Dahl, Neera K / Besse, Whitney

Kidney360

2022 Volume 3, Issue 9, Page(s) 1640–1651

Abstract: Genetic testing is increasingly used in the workup and diagnosis of kidney disease and kidney-related disorders of undetermined cause. Out-of-pocket costs for clinical genetic testing have become affordable, and logistical hurdles overcome. The interest ... ...

Abstract	Genetic testing is increasingly used in the workup and diagnosis of kidney disease and kidney-related disorders of undetermined cause. Out-of-pocket costs for clinical genetic testing have become affordable, and logistical hurdles overcome. The interest in genetic testing may stem from the need to make or confirm a diagnosis, guide management, or the patient's desire to have a more informed explanation or prognosis. This poses a challenge for providers who do not have formal training in the selection, interpretation, and limitations of genetic tests. In this manuscript, we provide detailed discussion of relevant cases in which clinical genetic testing using a kidney gene panel was applied. The cases demonstrate identification of pathogenic variants for monogenic diseases-contrasting them from genetic risk alleles-and bring up diagnostic limitations and diagnostic utility of these tests in nephrology. This review aims to guide clinicians in formulating pretest conversations with their patients, interpreting genetic variant nomenclature, and considering follow-up investigations. Although providers are gaining experience, there is still risk of testing causing more anxiety than benefit. However, with provider education and support, clinical genetic testing applied to otherwise unexplained kidney-related disorders will increasingly serve as a valuable diagnostic tool with the potential to reshape how we consider and treat many kidney-related diagnoses.
MeSH term(s)	Alleles ; Genetic Testing ; Humans ; Kidney ; Kidney Diseases/genetics ; Nephrology
Language	English
Publishing date	2022-07-08
Publishing country	United States
Document type	Journal Article ; Review ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
ISSN	2641-7650
ISSN (online)	2641-7650
DOI	10.34067/KID.0007552021
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Article ; Online: Loneliness Among College Students: The Influence of Targeted Messages on Befriending.

Besse, Robin / Whitaker, Whitney K / Brannon, Laura A

Psychological reports

2021 Volume 125, Issue 2, Page(s) 1121–1144

Abstract: The objective of the current research was to examine the influence of targeted messages in increasing helping behaviors towards lonely individuals. Previous research on loneliness interventions typically focuses on the lonely individual and working to ... ...

Abstract	The objective of the current research was to examine the influence of targeted messages in increasing helping behaviors towards lonely individuals. Previous research on loneliness interventions typically focuses on the lonely individual and working to reduce feelings of loneliness. The current study expands on this research by targeting individuals
MeSH term(s)	Emotions ; Helping Behavior ; Humans ; Loneliness ; Students
Language	English
Publishing date	2021-02-16
Publishing country	United States
Document type	Journal Article
ZDB-ID	205658-6
ISSN	1558-691X ; 0033-2941
ISSN (online)	1558-691X
ISSN	0033-2941
DOI	10.1177/0033294121993067
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Article ; Online: Cystic Kidney Diseases in Children and Adults: Differences and Gaps in Clinical Management.

Hanna, Christian / Iliuta, Ioan-Andrei / Besse, Whitney / Mekahli, Djalila / Chebib, Fouad T

Seminars in nephrology

2023 Volume 43, Issue 4, Page(s) 151434

Abstract: Cystic kidney diseases, when broadly defined, have a wide differential diagnosis extending from recessive diseases with a prenatal or pediatric diagnosis, to the most common autosomal-dominant polycystic kidney disease primarily affecting adults, and ... ...

Abstract	Cystic kidney diseases, when broadly defined, have a wide differential diagnosis extending from recessive diseases with a prenatal or pediatric diagnosis, to the most common autosomal-dominant polycystic kidney disease primarily affecting adults, and several other genetic or acquired etiologies that can manifest with kidney cysts. The most likely diagnoses to consider when assessing a patient with cystic kidney disease differ depending on family history, age stratum, radiologic characteristics, and extrarenal features. Accurate identification of the underlying condition is crucial to estimate the prognosis and initiate the appropriate management, identification of extrarenal manifestations, and counseling on recurrence risk in future pregnancies. There are significant differences in the clinical approach to investigating and managing kidney cysts in children compared with adults. Next-generation sequencing has revolutionized the diagnosis of inherited disorders of the kidney, despite limitations in access and challenges in interpreting the data. Disease-modifying treatments are lacking in the majority of kidney cystic diseases. For adults with rapid progressive autosomal-dominant polycystic kidney disease, tolvaptan (V2-receptor antagonist) has been approved to slow the rate of decline in kidney function. In this article, we examine the differences in the differential diagnosis and clinical management of cystic kidney disease in children versus adults, and we highlight the progress in molecular diagnostics and therapeutics, as well as some of the gaps meriting further attention.
MeSH term(s)	Adult ; Pregnancy ; Female ; Child ; Humans ; Polycystic Kidney, Autosomal Recessive/diagnosis ; Polycystic Kidney, Autosomal Recessive/genetics ; Polycystic Kidney, Autosomal Recessive/therapy ; Kidney ; Polycystic Kidney, Autosomal Dominant/complications ; Polycystic Kidney, Autosomal Dominant/diagnosis ; Polycystic Kidney, Autosomal Dominant/genetics ; Kidney Neoplasms ; Cysts/diagnosis ; Cysts/genetics ; Cysts/therapy
Language	English
Publishing date	2023-11-22
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	604652-6
ISSN	1558-4488 ; 0270-9295
ISSN (online)	1558-4488
ISSN	0270-9295
DOI	10.1016/j.semnephrol.2023.151434
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Article ; Online: Reducing Loneliness: The Impact of Mindfulness, Social Cognitions, and Coping.

Besse, Robin / Whitaker, Whitney K / Brannon, Laura A

Psychological reports

2021 Volume 125, Issue 3, Page(s) 1289–1304

Abstract: While many facets of loneliness have been explored, research examining the efficacy of loneliness interventions has been overlooked among young adults. The study of loneliness among young adults has become increasingly important considering the current ... ...

Abstract	While many facets of loneliness have been explored, research examining the efficacy of loneliness interventions has been overlooked among young adults. The study of loneliness among young adults has become increasingly important considering the current state of isolation and stay-at-home orders issued to prevent the spread of COVID-19. Preliminary reports suggest an increase in loneliness as a result of the current health pandemic, especially among young adults, who have reported feeling lonelier than any other age group. Such findings warrant the study of ways to help reduce loneliness among young adults. The current study examined the efficacy of strategies that might be used to help young adults manage feelings of loneliness. Two hundred and seventy-eight young adults completed the study. Participants read one of four messages: mindfulness, social cognitions, coping behaviors, or a control. Participants in the mindfulness condition felt better equipped to manage future instances of loneliness and held better attitudes toward this intervention. The current research helps to advance understanding of effective ways of helping young adults cope with loneliness.
MeSH term(s)	Adaptation, Psychological ; COVID-19 ; Humans ; Loneliness ; Mindfulness ; Social Cognition ; Young Adult
Language	English
Publishing date	2021-03-09
Publishing country	United States
Document type	Journal Article
ZDB-ID	205658-6
ISSN	1558-691X ; 0033-2941
ISSN (online)	1558-691X
ISSN	0033-2941
DOI	10.1177/0033294121997779
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Article ; Online: An update on ductal plate malformations and fibropolycystic diseases of the liver.

Mirza, Haris / Besse, Whitney / Somlo, Stefan / Weinreb, Jeffrey / Kenney, Barton / Jain, Dhanpat

Human pathology

2022 Volume 132, Page(s) 102–113

Abstract: A variety of cystic and fibrocystic lesions can occur in the liver, which may be single or multiple and etiologically can be acquired or have genetic underpinnings. Although the morphology of ductal plate development and various associated malformations ... ...

Abstract	A variety of cystic and fibrocystic lesions can occur in the liver, which may be single or multiple and etiologically can be acquired or have genetic underpinnings. Although the morphology of ductal plate development and various associated malformations has been well described, the genetic etiologies of many of these disorders are still poorly understood. Multiple clinical phenotypes in the liver are proposed to originate from ductal plate malformations: congenital hepatic fibrosis, Caroli's disease, Von Meyenburg complex, and the liver cysts of autosomal dominant polycystic kidney and liver diseases. Although many of the patients with these disorders, particularly with isolated liver involvement remain asymptomatic, some develop portal hypertension or symptoms from cyst enlargement. Development of hepatocellular malignancy is a risk in a small subset. Recent advances have made it now possible for some of these phenotypes to be genetically defined, and intriguingly animal models of adult polycystic liver disease suggest that abnormal organ development is not required. This review describes the current understanding, genetic underpinning, and key clinicopathologic and imaging features of these fibropolycystic liver diseases.
MeSH term(s)	Animals ; Humans ; Liver Diseases/genetics ; Liver Diseases/diagnosis ; Liver Cirrhosis/diagnosis ; Caroli Disease/genetics ; Caroli Disease/diagnosis
Language	English
Publishing date	2022-06-28
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	207657-3
ISSN	1532-8392 ; 0046-8177
ISSN (online)	1532-8392
ISSN	0046-8177
DOI	10.1016/j.humpath.2022.06.022
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Article ; Online: Dnajb11-Kidney Disease Develops from Reduced Polycystin-1 Dosage but not Unfolded Protein Response in Mice.

Ghosh Roy, Sounak / Li, Zhigui / Guo, Zi / Long, Kelly Tran / Rehrl, Sonja / Tian, Xin / Dong, Ke / Besse, Whitney

Journal of the American Society of Nephrology : JASN

2023 Volume 34, Issue 9, Page(s) 1521–1534

Abstract: Significance statement: Heterozygous DNAJB11 mutation carriers manifest with small cystic kidneys and renal failure in adulthood. Recessive cases with prenatal cystic kidney dysplasia were recently described. Our in vitro and mouse model studies ... ...

Abstract	Significance statement: Heterozygous DNAJB11 mutation carriers manifest with small cystic kidneys and renal failure in adulthood. Recessive cases with prenatal cystic kidney dysplasia were recently described. Our in vitro and mouse model studies investigate the proposed disease mechanism as an overlap of autosomal-dominant polycystic kidney disease and autosomal-dominant tubulointerstitial kidney disease pathogenesis. We find that DNAJB11 loss impairs cleavage and maturation of the autosomal-dominant polycystic kidney disease protein polycystin-1 (PC1) and results in dosage-dependent cyst formation in mice. We find that Dnajb11 loss does not activate the unfolded protein response, drawing a fundamental contrast with the pathogenesis of autosomal-dominant tubulointerstitial kidney disease. We instead propose that fibrosis in DNAJB11 -kidney disease may represent an exaggerated response to polycystin-dependent cysts. Background: Patients with heterozygous inactivating mutations in DNAJB11 manifest with cystic but not enlarged kidneys and renal failure in adulthood. Pathogenesis is proposed to resemble an overlap of autosomal-dominant polycystic kidney disease (ADPKD) and autosomal-dominant tubulointerstitial kidney disease (ADTKD), but this phenotype has never been modeled in vivo . DNAJB11 encodes an Hsp40 cochaperone in the endoplasmic reticulum: the site of maturation of the ADPKD polycystin-1 (PC1) protein and of unfolded protein response (UPR) activation in ADTKD. We hypothesized that investigation of DNAJB11 would shed light on mechanisms for both diseases. Methods: We used germline and conditional alleles to model Dnajb11 -kidney disease in mice. In complementary experiments, we generated two novel Dnajb11-/- cell lines that allow assessment of PC1 C-terminal fragment and its ratio to the immature full-length protein. Results: Dnajb11 loss results in a profound defect in PC1 cleavage but with no effect on other cystoproteins assayed. Dnajb11-/- mice are live-born at below the expected Mendelian ratio and die at a weaning age with cystic kidneys. Conditional loss of Dnajb11 in renal tubular epithelium results in PC1 dosage-dependent kidney cysts, thus defining a shared mechanism with ADPKD. Dnajb11 mouse models show no evidence of UPR activation or cyst-independent fibrosis, which is a fundamental distinction from typical ADTKD pathogenesis. Conclusions: DNAJB11 -kidney disease is on the spectrum of ADPKD phenotypes with a PC1-dependent pathomechanism. The absence of UPR across multiple models suggests that alternative mechanisms, which may be cyst-dependent, explain the renal failure in the absence of kidney enlargement.
MeSH term(s)	Mice ; Animals ; Polycystic Kidney, Autosomal Dominant/pathology ; TRPP Cation Channels/metabolism ; Kidney/pathology ; Polycystic Kidney Diseases/metabolism ; Disease Models, Animal ; Renal Insufficiency/complications ; Cysts/genetics
Chemical Substances	TRPP Cation Channels
Language	English
Publishing date	2023-06-19
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1085942-1
ISSN	1533-3450 ; 1046-6673
ISSN (online)	1533-3450
ISSN	1046-6673
DOI	10.1681/ASN.0000000000000164
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Article ; Online: Genetic Analysis of Severe Polycystic Liver Disease in Japan.

Mizuno, Hiroki / Besse, Whitney / Sekine, Akinari / Long, Kelly T / Kurihara, Shigekazu / Oba, Yuki / Yamanouchi, Masayuki / Hasegawa, Eiko / Suwabe, Tatsuya / Sawa, Naoki / Ubara, Yoshifumi / Somlo, Stefan / Hoshino, Junichi

Kidney360

2024

Abstract: Background: Polycystic liver disease (PLD) is present in most patients with autosomal dominant polycystic kidney disease (ADPKD). PLD can alternatively be found with few, if any, kidney cysts as a diagnosis of isolated polycystic liver disease (ADPLD). ... ...

Abstract	Background: Polycystic liver disease (PLD) is present in most patients with autosomal dominant polycystic kidney disease (ADPKD). PLD can alternatively be found with few, if any, kidney cysts as a diagnosis of isolated polycystic liver disease (ADPLD). Several genes are identified as causative for this spectrum of phenotypes, however, the relative incidence of genetic etiologies amongst patients with severe PLD is unknown. Methods: Patients with ADPKD or ADPLD having severe PLD defined as height-adjusted total liver volume (hTLV) over 1,800mL/m were recruited. Subsequent clinical care was followed. Genetic analysis was performed using whole exome sequencing. Result: We enrolled and sequenced 49 patients (38 females, 11 males). Pathogenic or suspected pathogenic variants in polycystic disease genes were found in 44 out of 49 patients (90%). The disease gene was PKD1 in 20/44 (45%), PKD2 in 15/44 (34%), PRKCSH in 5/44 (11%), GANAB in 2/44 (5%), SEC63 in 1/44 (2%), and ALG8 in 1/44 (2%). The median hTLV was no different between genetically-defined ADPKD and ADPLD groups (4431 (range 1817-9148) versus 3437 (range 1860-8211) mL, p=0.77), whereas height-adjusted kidney volume (hTKV) was larger as expected in ADPKD than ADPLD (607 (range 190-2842) versus 179 (range 138-234) mL/m, p<0.01). Of the clinically-defined ADPKD cases, 20/38 (53%) were PKD1, 15/38 (39%) were PKD2, and 3 (8%) remain genetically unsolved. Among patients with a pathogenic PKD1 or PKD2 variant, we found three cases with a liver-dominant ADPKD (severe PLD with hTKV <250mL/m). Conclusion: ADPLD-related genes represent 20% of severe PLD patients in our cohort. Of those enrolled with ADPKD, we observed a higher frequency of PKD2 carriers than in any previously reported ADPKD cohorts. While there was no significant difference in the hTLV between PKD1 versus PKD2 patients in this cohort, our data suggests that enrollment on the basis of severe PLD may enrich for PKD2 patients.
Language	English
Publishing date	2024-05-01
Publishing country	United States
Document type	Journal Article
ISSN	2641-7650
ISSN (online)	2641-7650
DOI	10.34067/KID.0000000000000461
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Article ; Online: Large Deletions in

Wilson, Elena M / Choi, Jungmin / Torres, Vicente E / Somlo, Stefan / Besse, Whitney

Kidney international reports

2020 Volume 5, Issue 5, Page(s) 727–731

Language	English
Publishing date	2020-01-30
Publishing country	United States
Document type	Journal Article
ISSN	2468-0249
ISSN (online)	2468-0249
DOI	10.1016/j.ekir.2020.01.009
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Article ; Online: Adult Inactivation of the Recessive Polycystic Kidney Disease Gene Causes Polycystic Liver Disease.

Besse, Whitney / Roosendaal, Charlotte / Tuccillo, Luigi / Roy, Sounak Ghosh / Gallagher, Anna-Rachel / Somlo, Stefan

Kidney360

2021 Volume 1, Issue 10, Page(s) 1068–1076

Abstract: Background: A major difference between autosomal recessive polycystic kidney disease (ARPKD) and autosomal dominant polycystic kidney disease (ADPKD) lies in the pattern of inheritance, and the resultant timing and focality of cyst formation. In both ... ...

Abstract	Background: A major difference between autosomal recessive polycystic kidney disease (ARPKD) and autosomal dominant polycystic kidney disease (ADPKD) lies in the pattern of inheritance, and the resultant timing and focality of cyst formation. In both diseases, cysts form in the kidney and liver as a consequence of the cellular recessive genotype of the respective disease gene, but this occurs by germline inheritance in ARPKD and somatic second hit mutations to the one normal allele in ADPKD. The fibrocystic liver phenotype in ARPKD is attributed to abnormal ductal plate formation because of the absence of Methods: We used an adult-inducible Results: Inactivation of Conclusions: Somatic adult inactivation of
MeSH term(s)	Animals ; Cysts/genetics ; Female ; Liver Diseases/genetics ; Mice ; Polycystic Kidney, Autosomal Recessive/genetics ; Receptors, Cell Surface/genetics
Chemical Substances	Pkhd1 protein, mouse ; Receptors, Cell Surface
Language	English
Publishing date	2021-02-04
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ISSN	2641-7650
ISSN (online)	2641-7650
DOI	10.34067/kid.0002522020
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