BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2

Question 1

What is  BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2?

Accepted Answer

rare
autosomal recessive
mutation in the potassium channel ROMK gene (KCNJ1)
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 2

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 241200

Question 4

Which enzymes are involved?

Accepted Answer

ATP-sensitive inward rectifier potassium channel 1

Disease	BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2
Synonym	HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA 2, ANTENATAL
OMIM	241200 OMIM = Online Mendelian Inheritance of Men
Orphanet	112
Protein (UniProt)	ATP-sensitive inward rectifier potassium channel 1
Gene locus	11q24.3
ICD	E26.8
Summary	rare autosomal recessive mutation in the potassium channel ROMK gene (KCNJ1) 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 dec (serum) Chloride inc (amniotic fluid) Magnesium normal/inc (serum) Potassium dec (serum) Potassium inc (urine) Prostaglandin E2 inc (serum) Renin activity (PRA) or renin inc (plasma)
Symptoms	constipation dehydration developmental delay diarrhea failure to thrive fever hypokalemia mental retardation metabolic alkalosis muscle cramps nephrocalcinosis onset, childhood onset, neonatal paresthesia polydipsia (increased drinking) polyhydramnion (maternal) polyuria prematurity, premature delivery prominent forehead seizures short stature small for gestational age (SGA), intrauterine growth retardation (IUGR) tetany vomiting