Bartter syndrome- antenatal- type 2

December 31, 2014

Overview

Bartters syndrome, antenatal , type 2: A rare genetic kidney disorder that causes hypokalemia. A defect in the ROMK gene impairs the ATP-regulated potassium channel functioning and leads to electrolyte imbalance

Symptoms

The list of signs and symptoms mentioned in various sources for Bartters syndrome, antenatal , type 2 includes the 22 symptoms listed below:

Premature birth
Polyhydramnios
Severe dehydration following birth
Hypokalemic alkalosis
Nephrocalcinosis
Short stature
Mental retardation
Rickets
Weakness
Muscle cramps
Hyperreninism
Fetal polyuria
Vomiting
Fever
Diarrhea
Developmental delay if untreated
Failure to thrive if untreated
High urine level of potassium
High urine level of chloride
Loss of potassium from kidneys
Frequent urination
Growth deficiency

Causes

Neonatal Bartter syndrome * An autosomal recessive mode of inheritance is observed in some patients, although many cases are sporadic. * In type I Bartter syndrome, loss-of-function mutations in the sodium-chloride potassium-chloride cotransporter gene NKCC2 (locus SLC12A1 on chromosome bands 15q15-21) have been detected. * In type II Bartter syndrome, mutations occur in the ROMK gene (locus KCNJ1 on chromosome bands 11q24-25). * Newly described genetic defects include type IV (in the BSND gene) and type V (digenic, in both CLCNKB and CLCNKA genes).

Diagnosis

These home medical tests may be relevant to Bartters syndrome, antenatal , type 2: * Home Pregnancy Tests * Home Early Pregnancy Tests * Home Ovulation Tests * Home Fertility Tests * Home Rhesus/RH Blood Type Tests * Home Fetal Tests * Fertility-related Home Testing: * Home Ovulation Tests * Home Fertility Tests * Male Fertility Tests * Home Sperm Tests * Sperm Count Tests * Sperm Motility Tests