Pancreatic agenesis
| Classification according to ICD-10 | |
|---|---|
| Q45.0 | Agenesis, aplasia and hypoplasia of the pancreas |
| ICD-10 online (WHO version 2019) | |
As Pankreasagenesie refers to the full ( total Pankreasagenesie ) or partially ( partial Pankreasagenesie ) absence of the pancreas .
The malformation was first described in 1969 by Dourov and Buyl-Strouvens . It is very rare, so far only 8 human cases are known. The cause is a defect in the gene for the insulin promoter factor 1 on chromosome 13 ( gene locus 13q12.1).
Clinical picture
Partial pancreatic agenesis can be asymptomatic because the existing tissue is able to produce sufficient enzymes and hormones. Total pancreatic agenesis shows itself in fatty stool due to exocrine pancreatic insufficiency , short stature and type 1 diabetes .
treatment
Treatment is carried out by administering pancreatin and insulin .
literature
- Burkhard Rodeck, Klaus-Peter Zimmer: Pediatric gastroenterology, hepatology and nutrition . Springer Science & Business Media, 2008, ISBN 9783540739685 , p. 118.
- Helmut Messmann: Clinical Gastroenterology: The book for advanced and advanced training plus DVD with over 1,000 findings. Georg Thieme Verlag 2011, ISBN 9783131659910 , p. 709.
- Pancreatic agenesis. In: Online Mendelian Inheritance in Man . (English)
Individual evidence
- ↑ pancreatic agenesis. In: Orphanet (Rare Disease Database).
