Background: In developing countries, due to the lack of medical resources, it is necessary to do the preliminary diagnosis of Bartter syndrome and Gitelman syndrome according to the existing clinical data rather than the genetic testing. Is clinical diagnosis consistent with the gene diagnosis?
Objective and hypotheses: To summarise the childrens clinical features, furosemide/hydrochlorothiazide loading test and genotype of Bartter syndrome and Gitelman syndrome; To guide the clinical diagnosis and selecting the target gene examination of Bartter and Gitelman syndrome through the clinical features and furosemide/hydrochlorothiazide loading test.
Method: Retrospective analysis of clinical and biochemical characteristics, furosemide/hydrochlorothiazide loading test and genetic testing results of six cases (all of them were confirmed by gene examinations) of Bartter syndrome and Gitelman syndrome in the period from 2012 to 2014.
Results: Six patients came from six families, newly diagnosed at the age of 0.9115.72 years old, and median age was 5.37 years. All patients had hypokalemic alkalosis with the normotensive, hyperreninemic hyperaldosteronism. Most of them had polydipsia, polyuria, and various degrees of growth retardation. The clinical diagnosis of Batter syndrome patients had hypercalciuria and the △FEcl<2.3% in Furosemide loading test. Meanwhile the Gitelman syndrome patients had hypomagnesemia and the△FEcl<2.3% in hydrochlorothiazide loading test. All the initial clinical diagnosis and genetic diagnosis is consistent at last.
Conclusion: According to the results of furosemide/hydrochlorothiazide loading test and clinical deta (hypomagnesemia, hypercalciuria), we can better carry out the preliminary diagnosis, and guide the selection of a target gene detection to save costs and medical resources.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology