Phenotypic variation of autosomal recessive pseudohypoaldosteronism type I: a case in point
نویسندگان
چکیده
KEY CLINICAL MASSAGE We present a 27-month-old male infant with pseudohypoaldosteronism, with two novel α-subunits, epithelial sodium channel (ENaC) mutations. Despite the presence of the ENaC in the lungs, kidneys, and exocrine glands, he continues to only have renal and exocrine involvement, stressing differential effects of the mutation in each organ.
منابع مشابه
Autosomal dominant hypocalcaemia: A novel mutation.
1. Cheek DB, Perry JW. A salt wasting syndrome in infancy. Arch Dis Child. 1958;33:252--6. 2. Hanukoglu A. Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects. J Clin Endocrinol Metab. 1991;73:936--44. 3. Bonny O, Rossier BC. Disturbances of Na/K balance: pseudohypoaldosteronism revisited. J Am Soc Nephrol. ...
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عنوان ژورنال:
دوره 2 شماره
صفحات -
تاریخ انتشار 2014