Experimental Nephrology and Genetics: Case Study of Genetic Interest

Sambharia M.a· Freese M.E.a· Donato F.b· Bathla G.b· Abukhiran I.M.M.c· Dantuma M.I.d· Mansilla M.A.d· Thomas C.P.a,d,e,f

Author affiliations

aDivision of Nephrology, Department of Internal Medicine, University of Iowa, Iowa City, IA, USA
bDepartment of Radiology, University of Iowa, Iowa City, IA, USA
cDepartment of Pathology, University of Iowa, Iowa City, IA, USA
dThe Iowa Institute of Human Genetics, University of Iowa, Iowa City, IA, USA
eDepartment of Pediatrics, College of Medicine, University of Iowa, Iowa City, IA, USA
fVeterans Affairs Medical Center, Iowa City, IA, USA

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Article / Publication Details

First-Page Preview

Received: May 05, 2022
Accepted: October 20, 2022
Published online: January 06, 2023

Number of Print Pages: 9
Number of Figures: 4
Number of Tables: 2

ISSN: 1660-8151 (Print)
eISSN: 2235-3186 (Online)

For additional information: https://www.karger.com/NEF

Abstract

The clinical features of cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis (COACH) characterize the rare autosomal recessive multisystem disorder called COACH syndrome. COACH syndrome belongs to the spectrum of Joubert syndrome and related disorders (JSRDs) and liver involvement distinguishes COACH syndrome from the rest of the JSRD spectrum. Developmental delay and oculomotor apraxia occur early but with time, these can improve and may not be readily apparent or no longer need active medical management. Congenital hepatic fibrosis and renal disease, on the other hand, may develop late, and the temporal incongruity in organ system involvement may delay the recognition of COACH syndrome. We present a case of a young adult presenting late to a Renal Genetics Clinic for evaluation of renal cystic disease with congenital hepatic fibrosis, clinically suspected to have autosomal recessive polycystic kidney disease. Following genetic testing, a reevaluation of his medical records from infancy, together with reverse phenotyping and genetic phasing, led to a diagnosis of COACH syndrome.

© 2023 S. Karger AG, Basel

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First-Page Preview

Received: May 05, 2022
Accepted: October 20, 2022
Published online: January 06, 2023

Number of Print Pages: 9
Number of Figures: 4
Number of Tables: 2

ISSN: 1660-8151 (Print)
eISSN: 2235-3186 (Online)

For additional information: https://www.karger.com/NEF

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