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Korean J Pediatr 2010 August;53(8) :809-813.
A case of Bartter syndrome type I with atypical presentations
Eun Hye Lee (Lee EH)1, Ju Sun Heo (Heo JS)1, Hyun Kyung Lee (Lee HK)1, Kyung Hee Han (Han KH)1, Hee Gyung Kang (Kang HG)2, II Soo Ha (Ha IS)3, Hae Il Cheong (Cheong HI)4
1Department of Pediatrics, Seoul National University Children`s Hospital, Seoul, Korea
2Department of Pediatrics, Research Center for Rare Diseases, Seoul National University Children`s Hospital, Seoul, Korea
3Department of Pediatrics, Kidney Research Institute, Seoul National University Children`s Hospital, Seoul, Korea
4Department of Pediatrics, Research Center for Rare Diseases, Kidney Research Institute, Seoul National University Children`s Hospital, Seoul, Korea
Corresponding Author: Hae Il Cheong ,Email:
Copyright © 2010 by The Korean Pediatric Society
Bartter syndrome (BS) is an autosomal recessively inherited rare renal tubular disorder characterized by hypokalemic metabolic alkalosis and hyperreninemic hyperaldosteronism with normal to low blood pressure due to a renal loss of sodium. Genetically, BS is classified into 5 subtypes according to the underlying genetic defects, and BS is clinically categorized into antenatal BS and classical BS according to onset age. BS type I is caused by loss-of-function mutations in the SLC12A1 gene and usually manifests as antenatal BS. This report concerns a male patient with compound heterozygous missense mutations on SLC12A1 (p.C436Y and p.L560P) and atypical clinical and laboratory features. The patient had low urinary sodium and chloride levels without definite metabolic alkalosis until the age of 32 months, which led to confusion between BS and nephrogenic diabetes insipidus (NDI). In addition, the clinical onset of the patient was far beyond the neonatal period. Genetic study eventually led to the diagnosis of BS type I. The low urinary sodium and chloride concentrations may be caused by secondary NDI, and the later onset may suggest the existence of a genotype-phenotype correlation. In summary, BS type I may have phenotype variability including low urine sodium and chloride levels and later onset. A definitive diagnosis can be confirmed by genetic testing.
Keywords: Bartter syndrome | Nephrogenic diabetes insipidus | SLC12A1 gene | Child
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