[Bartter syndrome and it's neonatal type].
For the first time neonatal variant of Bartter syndrome to 14.5-year old girl is presented in Lithuania. It is a rare genetical disease with autosomal recessive inheritance. The patient was born prematurely, had polyhydramnion, polyuria and polydypsia, a craving for salt, specific outlook and was mentally retarded, had muscle weakness and nephrocalcinosis. Hypokalemia, hyperreninemia and metabolic alkalosis were found. Urine analysis revealed impaired renal concentration capacity, hypercalciuria and hypernatriuria. She had the symptom of systemic disease - osteopenia. Literature review on Bartter's syndrome is done.
Jankauskiene
Augustina
A
Vilnius University Children's Hospital, Vilnius, Lithuania. augustina@taide.lt
Jakutovic
Marija
M
D000293:Adolescent; D000894:Anti-Inflammatory Agents, Non-Steroidal / Q000008:administration & dosage / Q000627:therapeutic use; D001477:Bartter Syndrome / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D001851:Bone Diseases, Metabolic / Q000175:diagnosis / Q000000981:diagnostic imaging; D002118:Calcium / Q000627:therapeutic use; D005260:Female; D006801:Humans; D007008:Hypokalemia / Q000175:diagnosis; D007213:Indomethacin / Q000008:administration & dosage / Q000627:therapeutic use; D007231:Infant, Newborn; D007234:Infant, Premature; D000451:Mineralocorticoid Receptor Antagonists / Q000008:administration & dosage / Q000627:therapeutic use; D009397:Nephrocalcinosis / Q000175:diagnosis / Q000000981:diagnostic imaging; D011859:Radiography; D013148:Spironolactone / Q000008:administration & dosage / Q000627:therapeutic use; D016896:Treatment Outcome; D014463:Ultrasonography
D000894:Anti-Inflammatory Agents, Non-Steroidal; D000451:Mineralocorticoid Receptor Antagonists; D013148:Spironolactone; D002118:Calcium; D007213:Indomethacin