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Summary
BARTTER-LIKE-SYNDROME DD
AQUIRED BARTTER-LIKE-SYNDROME
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OMIM = Online Medalian Inheritance of Men
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Detail information to gene locus by the National Center for Biotechnology Information NCBI:
Aminoglycosides can result in renal tubular dysfunction leading to
Fanconi syndrome, Bartter syndrome, and distal tubular acidosis [Sharma P and Sahay RN 2017]
symptoms
hypokalemia
metabolic alkalosis
muscle weakness
onset, variable age
paresthesia
polyuria
renal dysfunction, renal defects
tetany
tubulopathy
laboratory finding
Potassium decreasedserum
Calcium decreasedserum
Magnesium decreasedserum
Literature
Rodr+¬°guez CE,et al.Proteomic analysis in cerebrospinal fluid of patients with atypical nonketotic hyperglycinemia and pulmonary hypertension - A pilot studyProteomics Clin Appl3121430-14392009
Li HFClinical and molecular genetic characteristics of nonketotic hyperglycinemiaZhongguo Dang Dai Er Ke Za Zhi193272-2742017
Coughlin CR 2nd,et al.The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMTGenet Med191104-1112017
del Toro M,et al.Progressive vacuolating glycine leukoencephalopathy with pulmonary hypertensionAnn Neurol601148-1522006
Bravo-Alonso I,et al.Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the diseaseHum MutatHum Mutat386678-6912017