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Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Case+Rep+Pediatr 2017 ; 2017 (ä): ä Nephropedia Template TP
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Systemic Pseudohypoaldosteronism Type I: A Case Report and Review of the Literature #MMPMID28484659
Nur N; Lang C; Hodax JK; Quintos JB
Case Rep Pediatr 2017[]; 2017 (ä): ä PMID28484659show ga
Systemic pseudohypoaldosteronism (PHA) type I is a rare genetic disorder resulting from mutations in the subunits of the epithelial sodium channel that manifests as severe salt wasting, hyperkalemia, and metabolic acidosis in infancy. In this article we report a patient with systemic PHA type I presenting with severe dehydration due to salt wasting at 6 days of life. She was found to have a known mutation in the SCNN1A gene and subsequently required treatment with sodium supplementation. We also review the clinical presentation, differential diagnosis, and treatment of systemic PHA type I and summarize data from 27 cases with follow-up data.