Phenotypic variation of autosomal recessive pseudohypoaldosteronism type I: a case in point
نویسندگان
چکیده
منابع مشابه
Phenotypic variation of autosomal recessive pseudohypoaldosteronism type I: a case in point
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.
متن کاملAutosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults.
Autosomal dominant pseudohypoaldosteronism type 1 (adPHA1) is a rare condition that is characterized by renal resistance to aldosterone, with salt wasting, hyperkalemia, and metabolic acidosis. It is thought of as a mild disorder; affected children's symptoms respond promptly to salt therapy, and treatment is not required after childhood. Mutations in the mineralocorticoid receptor gene (MR) ca...
متن کاملA Case Report of Schimke Immuno-Osseous Dysplasia: A Rare Autosomal Recessive Disorder
Schimke immune-osseous dysplasia (SIOD) is a rare autosomal recessive disorder presented with specific facial features, skeletal dysplasia, steroid resistance nephrotic syndrome (SRNS) and cellular immune insufficiency. This is a SIOD case reported from Iran. He was 5 years old boy when evaluated for proteinuria and short stature. In appearance, we detected hyperpigmented macules, kyphosc...
متن کاملMineralocorticoid receptor mutations and a severe recessive pseudohypoaldosteronism type 1.
Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disease of mineralocorticoid resistance characterized by salt wasting and failure to thrive in infancy. Here we describe the first case of a newborn with severe recessive PHA1 caused by two heterozygous mutations in NR3C2, gene coding for the mineralocorticoid receptor (MR). Independent segregation of the mutations occurred in the family, ...
متن کاملMutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation.
Retinitis pigmentosa (RP), which occurs in about one in 3000-7000 people in Spain, is inherited in an autosomal dominant manner in 12% of cases, in an autosomal recessive way in 39%, and in an X linked manner in 4% of cases. This leaves 41% of RP cases with a simplex form and 4% in which the transmission pattern is unclear. Direct analyses of rhodopsin, the alpha and gamma subunits of rod cGMP-...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Clinical Case Reports
سال: 2014
ISSN: 2050-0904,2050-0904
DOI: 10.1002/ccr3.129