CONGENITAL SECRETORY DIARRHOEA

Question 1

What is  CONGENITAL SECRETORY DIARRHOEA?

Accepted Answer

very rare
autosomal recessive
mutation in the SPINT2 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Natrium-Diarrhoe, kongenitale

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 270420

Question 4

Which enzymes are involved?

Accepted Answer

Kunitz-type protease inhibitor 2

Disease	CONGENITAL SECRETORY DIARRHOEA
Synonym	CONGENITAL SODIUM DIARRHEA
OMIM	270420 OMIM = Online Mendelian Inheritance of Men
Orphanet	103908
Protein (UniProt)	Kunitz-type protease inhibitor 2
Gene locus	19q13.2
ICD	P78.3
Summary	very rare autosomal recessive mutation in the SPINT2 gene
Laboratory findings	Bicarbonate inc (stool) Sodium dec (serum) Sodium normal/dec (urine) Sodium inc (stool)
Symptoms	abdominal distension diarrhea low set ears macrocephaly (large calvaria, >2 SD for age) metabolic acidosis onset, neonatal polyhydramnion (maternal) renal failure, acute/chronic