Abstract | BACKGROUND/AIMS: METHODS: We performed DNA sequencing analysis of SCNN1A, SCNN1B, SCNN1G and NR3C2 genes. RESULTS: We found a novel c.1266-1G>C homozygous splice site mutation in intron 8 of the SCNN1B gene. Initially elevated plasma renin activity (PRA) and aldosterone levels of the patient returned to normal with large amounts of dietary salt and serum sodium (Na+) and potassium (K+) levels were within normal range at the end of the first year of life. CONCLUSION: This improvement may be due to partial activity of mutated ENaC subunits, reduced dependence on aldosterone in salt homeostasis with increasing age, and alternative regulating mechanisms in sodium homeostasis. The results enhance our understanding of the pathophysiology of this disorder and the mechanisms of renal salt conservation.
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Authors | Cagla Serpil Dogan, Durmaz Erdem, Parlak Mesut, Akan Merve, Akcurin Sema, Bircan Iffet, Berdeli Afig |
Journal | Journal of pediatric endocrinology & metabolism : JPEM
(J Pediatr Endocrinol Metab)
Vol. 25
Issue 9-10
Pg. 1035-9
( 2012)
ISSN: 0334-018X [Print] Germany |
PMID | 23426840
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Epithelial Sodium Channels
- RNA Splice Sites
- SCNN1B protein, human
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Topics |
- Epithelial Sodium Channels
(genetics)
- Humans
- Infant, Newborn
- Male
- Mutation
- Pseudohypoaldosteronism
(genetics)
- RNA Splice Sites
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