Content area

|
|

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

Forfatter(e)
Balder Bille Andersen1 & Ove B. Schaffalitzky de Muckadell2
1) Medicinsk Afdeling, Vejle Sygehus 2) Afdeling for Medicinske Mavetarmsygdomme, Odense Universitetshospital

Ugeskr Læger 2019;181:V08190452

Reference: 
Ugeskr Læger 2019;181:V08190452
Blad nummer: 

Balder Bille Andersen & Ove B. Schaffalitzky de Muckadell:

17q12 deletion as a possible cause of agenesis of the dorsal pancreas and polycystic kidney disease

Ugeskr Læger 2019;181:V08190452

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.

Du skal være logget ind for at læse denne artikel
Log ind

Right side

af Julius Vindbjerg Nissen | 14/08
1 Kommentar
af Ulrich Fredberg | 14/08
1 Kommentar
af Karen Flink Konstantin-Hansen | 13/08
3 kommentarer
af Susanne Mejlby Nielsen | 06/08
4 kommentarer
af Gunvor Kramshøj Larsen | 04/08
28 kommentarer
af Olaf Bjarne Paulson | 03/08
1 Kommentar
af Hanne Hulgaard | 02/08
4 kommentarer
af Christian Stefan Legind | 28/07
1 Kommentar
af Connie Lærkholm Hansen | 23/07
1 Kommentar