Pseudohypoaldosteronism in Two Omani Siblings with a Novel Mutation in the SCNN1A Gene
Journal Title: Journal of Endocrinology and Diabetes - Year 2017, Vol 4, Issue 2
Abstract
Background:Type1 PHA is a rare heterogeneous group of disorders with resistance to the action of Aldosterone. Biochemically, it is characterized by hyponatremia, hyperkalemia, metabolic acidosis and elevated serum Aldosterone and Renin. The systemic type is caused by a defect in the epithelial sodium channel causing retention of potassium and loss of sodium in the sweat, saliva, urine and stool. Presentation is usually in the neonatal period. It has an autosomal recessive mode of inheritance and is caused by mutations in one of the enac subunit genes (SCNN1A, SCNN1B, SCNN1C). Objective:To demonstrate the mode of presentation, clinical course, challenges and treatment of systemic PHA Type 1 in two Omani siblings from the region of dho far. Method:The clinical notes and lab results were obtained from the computerised medical records at the treating hospitals. Genetic analysis for the second sibling was carried out at the centogene Labs in Germany. Results:Both siblings presented in the first week of life. The first sibling had a more severe clinical course with skin manifestations. The clinical course was complicated by recurrent episodes of severe chest infections and electrolyte imbalance. Feeding difficulty and treatment of the electrolyte imbalance were challenges to the treating physician.Genetic analysis for the second sibling confirmed a novel mutation in the (SCNN1A) subunit gene of the (enac), Conclusion:Systemic Type 1 PHA presents as a neonatal emergency and is one of the differential diagnoses of neonatal hyperkalemia and hyponatremia. It can very well be confused with Congenital Adrenal Hyperplasia. The severity and extent of manifestations may differ within the same family. The disease can get milder with advancing age. Genomic testing for the carrier state in the asymptomatic siblings is recommended as well as in the parents to detect homozygosityor compound heterozygosity.
Authors and Affiliations
Hala A. J. Al-Shaikh
Keywords
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- EP ID EP333740
- DOI 10.15226/2374-6890/4/2/00173
- Views 105
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