Background: Bartter syndrome (BS) and Gitelman syndrome (GS) have similar clinical manifestations. Its hard to be distinguished by the symptoms and laboratory, even though the genetic analysis cannot identify them precisely. The precise diagnoses associate with the right treatment and prognosis. Hypercalciuria usually involved with neonate type Bartter syndrome, and hypomagnesemia with Gitelman syndrome.
Objective and hypotheses: This study was based on the analysis of clinical data of 72 patients of BS and GS, and tries to find some useful parameters to help to differentiate diagnose.
Method: To summarize the clinical data, and to analyze the correlation between clinical symptoms with urinary calcium and blood magnesium.
Results: 72 cases patients aged from 2 months to 15.5 years (median 1.75 years), sex ratio of boy: girl is 52:20. All patients had hypokalemia, metabolic alkalosis, normal blood pressure and the levels of plasma rennin, argiontensin and aldosterone elevated.The ratio of urine calcium/creatinine over 0.2 was considered as a mark of hypercalciuria. The age of hypercalciuria group was 2.64±2.95 years old, and that of ratio <0.2 was 8.26±4.49 years (P=0.00). The SDS of weight was −2.58±1.11 and −1.59±1.26 respectively (P< 0.005). The age of patients with hypomagnesemia (serum magnesium <0.8 mmol/l)was 7.88±4.47 years, and that of normal serum magnesium was 3.78±4.14 years (P=0.001), the SDS of weight were −2.42±1.60 and −1.42±1.13 (P=0.005). Correlation analysis showed that urinary calcium/creatinine ratio positive correlated with serum magnesium (R=0.355, P=0.008).
Conclusion: The patients with hypercalcinuria were younger than that of normal urine calcium, and coincidently with poor nourished and development. The GS patients with hypomagnesemia usually had mild symptoms. The clinical types and genotypes of BS and GS were often overlapped. Hypercalciuria and hypomagnesemia were a good parameters in the differential diagnosis of BS and GS.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology