Premium
Pseudohypoaldosteronism in a Female Infant and Her Family: Diversity of Clinical Expression and Mode of Inheritance
Author(s) -
CHITAYAT D.,
SPIRER Z.,
AYALON D.,
GOLANDER A.
Publication year - 1985
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1985.tb11046.x
Subject(s) - pseudohypoaldosteronism , medicine , failure to thrive , inheritance (genetic algorithm) , pediatrics , vomiting , genetics , hyperkalemia , biology , gene
. Pseudohypoaldosteronism was diagnosed in an infant that clinically presented severe failure to thrive and vomiting. Evaluation of her extended family revealed many other affected family members with a vast range of clinical expression. The mode of inheritance is most likely autosomal dominant. Salt supplementation during infancy was effective in restoring normal growth, weight gain and serum electrolytes.