BARTTER SYNDROME, TYPE 1, ANTENATAL; BARTS1 | |
HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA 1, ANTENATAL; HYPERPROSTAGLANDIN E SYNDROME 1 | |
601678
OMIM = Online Mendelian Inheritance of Men | |
112 | |
Solute carrier family 12 member 1 | |
15q21.1 |
|
E26.8 | |
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 |