MON-258 BATTER's SYNDROME TYPE V

Abstract

Bartter’s syndrome (BS) is a heterogeneous disorder with characteristic sets of metabolic abnormalities. Several Mutations of genes are associated with BS. Here, we present a case of BS with severe hypocalcaemia and hypomagnesemia. A 52-year-old woman was admitted to hospital with complaints of more than one-year course of fatigue and two weeks of nausea and vomiting. Her farther was health and her mother died of “heart attack” at the age of 57. Upon admission, her blood pressure was 110/70 mmHg. Her laboratory results revealed a serum creatinine (Scr) level was 273.3 umol/l. Urinalysis showed 1+ for protein, and urine protein was 1006 mg/day. She was found to have hypokalaemia, hypocalcemia, hypomagnesaemia, and hypophosphoremia. Blood gas analysis revealed: PH 7.44, PCO2: 33.70 mmHg, Na+ 133.0 mmol/L, K+ 2.10 mmol/L, Ca2+ 0.75mmol/L, bicarbonate radical concentration 22.60 mmol/L. 24 hours urine electrolytes: K+ 68.2 mmol/L, Na+ 334.8 mmol/L, Cl- 369.3 mmol/L, calcium 5.6 mmol/L, magnesium 1.3 mmol/L, phosphorus 8.3 mmol/L. Spot urine calcium/creatinine ratio was 295mg/g. Antinuclear antibody, anti-dsDNA antibody, Anti-Neutrophil Cytoplasmic Antibodies and complement were negative. The sizes of both kidneys were normal and urolithiasis was not detected by Doppler ultrasonography. After supportive treatment and fluid replacement, the symptoms of nausea and vomiting improved. Her serum creatinine and urinalysis returned to the normal level, however, hypokalemia, hypocalcaemia and ypomagnesaemia persisted. During hospitalization, she was also diagnosed as chronic viral hepatitis B. After intravenous and oral potassium, magnesium and calcium supplementation, her symptoms were significantly relieved and electrolyte indicators were improved. At present,she is asymptomatic and receiving oral supplementation (potassium 4.48g/d, calcium 1800mg/d, and magnesium 94.4mg/d). Her Scr was 97.6 umol/L, and electrolyte indicators showed :K+ 4.10 mmol/L, Na+ 143.9 mmol/L, Cl- 108.4 mmol/L, calcium 2.42 mmol/L，magnesium 0.65 mmol/L,and phosphorus 0.89 mmol/L. Spot urine calcium/creatinine ratio was 236mg/g. DNA sequence of CaSR gene shows a heterozygous mutation at Exon3. We have also examined whether this patient has mutations in the genes for SLC12A1, CLCNKB, KCNJ1, BSND, CLACNKA, SLC12A3, and CLCKB. The results are negative. Table-1Electrolyte indicatorsDateK+Na+Cl-Ca2+PhosphorusMagnesium (mmol/l)(mmol/l)(mmol/l)(mmol/l)(mmol/l)(mmol/l)Oct.314.1143.9108.42.420.890.65Oct.104.5144.3105.52.530.970.51Sep.303.2141.8104.92.460.720.46Sep.223.2138.899.91.930.620.37Sep.203.5139.8100.41.980.930.31Sep.193.8140102.72.060.860.35Sep.173.44141.5101.92.251.070.5Sep.143.2138.8100.91.80.920.61Sep.122.97138.4100.11.340.60.61Sep.113.3137.4100.11.240.570.33Sep.83.0135100.21.420.340.47Sep.63.3135.1103.31.350.250.259Sep.12.4136.596.51.680.610.14Aug.312.2136.298.11.600.610.13Aug.293.0139.9101.81.370.60.13Aug.282.2138.1104.81.220.540.19 Open table in a new tab Because of the presence of clinical manifestations of BS, the results indicated that the mutation is activating. The diagnose is Bartter’s syndrome type V.