Bartter’s syndrome
Overview
Bartter's syndrome, antenatal type 1: A rare genetic kidney disorder that causes hypokalemia. A defect in the NKCC2 gene impairs the functioning of the Na-Cl cotransporter and leads to electrolyte imbalance. The rate of death is high prior to diagnosis.
Symptoms
The list of signs and symptoms mentioned in various sources for Bartter's syndrome, antenatal type 1 includes the 37 symptoms listed below: * Premature birth * Polyhydramnios * Severe dehydration following birth * Severe hypercalciuria * Hypokalemic alkalosis * Nephrocalcinosis * Short stature * Mental retardation * Rickets * Weakness * Muscle cramps * Hyperreninism * Hyperaldosteronism * Increased kidney prostaglandin production * Erythrocytosis * Platelet aggregation defect * Impaired vascular responses to angiotensin II * Hypertrophy of juxtaglomerular apparatus * Hyperplasia of juxtaglomerular apparatus * Fetal polyuria * Vomiting * Fever * Diarrhea * Developmental delay if untreated * Failure to thrive if untreated * Prominent forehead * Triangular face * Large eyes * Drooping mouth * Large ears * High urine level of potassium * High urine level of chloride * Loss of potassium from kidneys * Frequent urination * Growth deficiency * Mental retardation * Excessive thirst
Causes
Both familial and sporadic forms of Bartter and Gitelman syndromes exist. Bartter and Gitelman syndromes are inherited as autosomal recessive syndromes
Diagnosis
These home medical tests may be relevant to Bartter's syndrome, antenatal type 1: * 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
Prognosis
The limited prognostic information available suggests that early diagnosis and appropriate treatment of infants and young children with Classic Bartter Syndrome may improve growth and perhaps neurointellectual development. On the other hand, sustained hypokalemia and hyperreninemia can cause progressive tubulointerstitial nephritis, resulting in end-stage-renal disease (Kidney failure). With early treatment of the electrolyte imbalances the prognosis for patients with Classic Bartter Syndrome is good.
Treatment
There is no cure for Bartter’s syndrome. The treatments consist of supplements to replace what is lost and medications to prevent urinary wasting of potassium and magnesium. In younger children growth hormone may be used to prevent the short stature and prostaglandin inhibitors to decrease the elevated prostaglandin levels. * Potassium Chloride Supplements * Magnesium Supplements * Spironolactone * Amilioride * Triamterene * Indomethacin * Captopril * Growth Hormone