Suspected Autosomal Recessive Polycystic Kidney Disease but Cerebellar Vermis Hypoplasia, Oligophrenia Ataxia, Coloboma, and Hepatic Fibrosis (COACH) Syndrome in Retrospect, A Delayed Diagnosis Aided by Genotyping and Reverse Phenotyping: A Case Report and A Review of the Literature.

Sambharia, Meenakshi; Freese, Margaret E; Donato, Francisco; Bathla, Girish; Abukhiran, Ibrahim M M; Dantuma, Maisie I; Mansilla, M Adela; Thomas, Christie P

Sambharia, Meenakshi; Freese, Margaret E; Donato, Francisco; Bathla, Girish; Abukhiran, Ibrahim M M; Dantuma, Maisie I; Mansilla, M Adela; Thomas, Christie P.

Afiliación

Sambharia M; Division of Nephrology, Department of Internal Medicine, University of Iowa, Iowa City, Iowa, USA.
Freese ME; Division of Nephrology, Department of Internal Medicine, University of Iowa, Iowa City, Iowa, USA.
Donato F; Department of Radiology, University of Iowa, Iowa City, Iowa, USA.
Bathla G; Department of Radiology, University of Iowa, Iowa City, Iowa, USA.
Abukhiran IMM; Department of Pathology, University of Iowa, Iowa City, Iowa, USA.
Dantuma MI; The Iowa Institute of Human Genetics, University of Iowa, Iowa City, Iowa, USA.
Mansilla MA; The Iowa Institute of Human Genetics, University of Iowa, Iowa City, Iowa, USA.
Thomas CP; Division of Nephrology, Department of Internal Medicine, University of Iowa, Iowa City, Iowa, USA.

Nephron ; 148(4): 264-272, 2024.

Article en En | MEDLINE | ID: mdl-36617405

RESUMEN

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.

Asunto(s)

Anomalías Múltiples; Encéfalo/anomalías; Vermis Cerebeloso; Cerebelo/anomalías; Colestasis; Coloboma; Enfermedades Genéticas Congénitas; Discapacidad Intelectual; Hepatopatías; Malformaciones del Sistema Nervioso; Riñón Poliquístico Autosómico Recesivo; Adulto Joven; Humanos; Coloboma/diagnóstico; Coloboma/genética; Riñón Poliquístico Autosómico Recesivo/diagnóstico; Riñón Poliquístico Autosómico Recesivo/genética; Diagnóstico Tardío; Genotipo; Cirrosis Hepática/genética; Ataxia/diagnóstico; Ataxia/genética; Discapacidad Intelectual/genética; Discapacidades del Desarrollo

Palabras clave

Cerebellar vermis hypoplasia; Cerebellar vermis hypoplasia, oligophrenia ataxia, coloboma, and hepatic fibrosis syndrome; Congenital hepatic fibrosis; Oculomotor apraxia; Renal cysts; TMEM67

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Encéfalo / Cerebelo / Coloboma / Colestasis / Riñón Poliquístico Autosómico Recesivo / Vermis Cerebeloso / Enfermedades Genéticas Congénitas / Hepatopatías / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies Límite: Adult / Humans Idioma: En Revista: Nephron Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Suiza

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