Abstract
Pseudohypoaldosteronism (PHA) was diagnosed in an infant who clinically presented with severe failure to thrive (FTT) and vomiting. There were no abnormal physical findings. The serum chemistry (mmol/L) were: Na-129, K-7.6; Co2-18; Cl-105; Urea 10. 17 (OH) progesterone was normal, serum aldosterone 207ng/dl (normal range 2-20ng/dl), plasma renin was greater than 13.6ng/ml/h (normal range 0.5-1.9ng/ml/h) in supine position. These results were consistent with the diagnosis of PHA. Evaluation of her extended family revealed that her mother and one maternal sibling had probable transient symptomatic PHA in infancy (presented as FTT vomiting and dehydration) and now have asymptomatic hyperaldosteronism; 4 more maternal siblings died with the same manifestations, and the patient's sister and a maternal uncle and aunt have asymptomatic PHA. The mode of inheritance in this family is consistent with an autosomal dominant disorder. Salt supplementation during infancy was effective in restoring normal growth, weight gain and serum electrolytes, but not aldosterone plasma levels. It is possible that PHA in its asymptomatic form is much more common than recognized and should be considered in the work up of infants with FTT. Current evidence suggests that this disorder is due to renal tubular unresponsiveness to aldosterone.
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Chitayat, D., Vi Spirer, Z., Ayalon, D. et al. 808 PSEUDOHYPOALDOSTERONISM IN A FEMALE INFANT AND HER FAMILY: DIVERSITY OF CLINICAL EXPRESSION AND MODE OF INHERITANCE. Pediatr Res 19, 245 (1985). https://doi.org/10.1203/00006450-198504000-00838
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DOI: https://doi.org/10.1203/00006450-198504000-00838