Antenatal Bartter syndrome resembling nephrogenic diabetes insipidus in a 5-year-old boy
Journal
Journal of the Formosan Medical Association = Taiwan yi zhi
Journal Volume
115
Journal Issue
5
Pages
382
Date Issued
2016-05
Author(s)
Abstract
A 5-year-old boy came to our outpatient clinic because of polyuria and polydipsia. His urine output was approximately 3.5 L/d. His laboratory data showed normal serum electrolytes and osmolality. The boy later suffered from vomiting and general weakness. He visited our emergency department and was hospitalized because of severe hypokalemia (1.9 mmol/L). His blood pressure was 105/ 73 mmHg. The blood gas tests initially showed metabolic alkalosis (pH 7.45, pCO2 40.0 mmHg, HCO3 e 27.5 mmol/L), where the urine chloride level was 14 mmol/L. The fractional excretion of potassium and sodium was 78.7% and 2.2%, respectively. Hypercalciuria was also noted [urine Ca (mg/dL)/urine Cr (mg/dL) Z 1.69]. Furthermore, renal sonography revealed bilateral medullary nephrocalcinosis, hydronephrosis, and hydroureters (Fig. 1). Because Bartter syndrome (BS) was suspected, molecular gene analysis was carried out. Two intronic mutations in the NaþeKþe2Cle cotransporter genedone in the consensus splicing site and the other as deep intronic mutationdconfirmed the diagnosis of type I BS. In addition, marked polyuria was noted with urine output up to 11 L/d. Urine osmolality was only 64 mOsm/kg H2O. Water deprivation test and pitressin test
SDGs
Other Subjects
potassium; potassium chloride; spironolactone; SLC12A1 protein, human; sodium potassium chloride cotransporter 2; Bartter syndrome; case report; child; gene; gene mutation; genetic analysis; human; hypercalciuria; hypokalemia; kidney calcification; Letter; male; metabolic alkalosis; nephrogenic diabetes insipidus; polydipsia; polyuria; potassium blood level; prenatal period; preschool child; sodium potassium chloride cotransporter gene; ultrasound; Bartter syndrome; complication; Diabetes Insipidus, Nephrogenic; echography; genetics; mutation; Bartter Syndrome; Child, Preschool; Diabetes Insipidus, Nephrogenic; Humans; Male; Mutation; Solute Carrier Family 12, Member 1; Ultrasonography
Publisher
ELSEVIER TAIWAN
Type
journal article