17q12-deletion som mulig årsag til dorsal pancreasagenesi og polycystisk nyresygdom

Balder Bille Andersen; Ove B. Schaffalitzky

17q12-deletion som mulig årsag til dorsal pancreasagenesi og polycystisk nyresygdom

Balder Bille Andersen, Ove B. Schaffalitzky

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

Abstract

This case report describes the diagnostic approach to an 18-year-old woman, known with Asperger’s syndrome (AS). She presented with abdominal pain, weight loss, nausea and a loss of appetite. Ultrasound and magnetic resonance imaging showed polycystic kidney disease (PKD) and agenesis of the dorsal pancreas (DPA). Genetic testing revealed a 1.5 mega-base deletion at chromosome 17q12, which included the HNF1β. She was diagnosed with 17q12 microdeletion syndrome, which could explain the presence of both DPA, PKD and AS.

Bidragets oversatte titel	17q12 deletion as a possible cause of agenesis of the dorsal pancreas and polycystic kidney disease
Originalsprog	Dansk
Artikelnummer	V08190452
Tidsskrift	Ugeskrift for Læger
Vol/bind	182
Udgave nummer	15
ISSN	0041-5782
Status	Udgivet - 2020

Dokumenter og links

https://ugeskriftet.dk/videnskab/17q12-deletion-som-mulig-arsag-til-dorsal-pancreasagenesi-og-polycystisk-nyresygdom

Citationsformater

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AB - This case report describes the diagnostic approach to an 18-year-old woman, known with Asperger’s syndrome (AS). She presented with abdominal pain, weight loss, nausea and a loss of appetite. Ultrasound and magnetic resonance imaging showed polycystic kidney disease (PKD) and agenesis of the dorsal pancreas (DPA). Genetic testing revealed a 1.5 mega-base deletion at chromosome 17q12, which included the HNF1β. She was diagnosed with 17q12 microdeletion syndrome, which could explain the presence of both DPA, PKD and AS.

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17q12-deletion som mulig årsag til dorsal pancreasagenesi og polycystisk nyresygdom

Abstract

Dokumenter og links

Fingeraftryk

Citationsformater