BARTTER SYNDROME, TYPE 1, ANTENATAL; BARTS1

Question 1

What is  BARTTER SYNDROME, TYPE 1, ANTENATAL; BARTS1?

Accepted Answer

rare
autosomal recessive
mutation in the sodium-potassium-chloride cotransporter-2 gene (SLC12A1)
Types of Bartter syndrome:
- Type I (OMIM 601678)
- Type II (OMIM 241200)
- Type III (OMIM 607364), classic Bartter syndrome
- Type IVA (OMIM 602522)
- Type IVB (OMIM 613090)
- Type V (OMIM 300971)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Bartter-Syndrom, Typ 1

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 601678

Question 4

Which enzymes are involved?

Accepted Answer

Solute carrier family 12 member 1

Disease	BARTTER SYNDROME, TYPE 1, ANTENATAL; BARTS1
Synonym	HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA 1, ANTENATAL; HYPERPROSTAGLANDIN E SYNDROME 1
OMIM	601678 OMIM = Online Mendelian Inheritance of Men
Orphanet	112
Protein (UniProt)	Solute carrier family 12 member 1
Gene locus	15q21.1
ICD	E26.8
Summary	rare autosomal recessive mutation in the sodium-potassium-chloride cotransporter-2 gene (SLC12A1) Types of Bartter syndrome: - Type I (OMIM 601678) - Type II (OMIM 241200) - Type III (OMIM 607364), classic Bartter syndrome - Type IVA (OMIM 602522) - Type IVB (OMIM 613090) - Type V (OMIM 300971)
Laboratory findings	Aldosterone inc (plasma) Calcium inc (urine) Chloride inc (amniotic fluid) Chloride inc (urine) Chloride dec (serum) Potassium inc (urine) Potassium dec (serum) Prostaglandin E2 inc (urine) Renin activity (PRA) or renin inc (plasma) Sodium inc (urine)
Symptoms	constipation dehydration developmental delay diarrhea failure to thrive fever hypochloremic alkalosis hypokalemia mental retardation metabolic alkalosis muscle cramps muscle weakness nephrocalcinosis onset, childhood onset, infancy onset, neonatal paresthesia polyhydramnion (maternal) polyuria prematurity, premature delivery seizures short stature small for gestational age (SGA), intrauterine growth retardation (IUGR) tetany vomiting