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

Balder Bille Andersen, Ove B. Schaffalitzky

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Abstrakt

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 titel17q12 deletion as a possible cause of agenesis of the dorsal pancreas and polycystic kidney disease
OriginalsprogDansk
ArtikelnummerV08190452
TidsskriftUgeskrift for Laeger
Vol/bind182
Udgave nummer15
ISSN0041-5782
StatusUdgivet - 2020

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