1. Pseudohypoaldosteronism type 1 and respiratory distress syndrome
- Author
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Ahmet Akçay, Mehmet Demirdöven, Serap Semiz, Rüveyde Bundak, and Taner Yavuz
- Subjects
Epithelial sodium channel ,Male ,Hyperkalemia ,amiloride ,hyponatremia ,sodium channel ,newborn ,Endocrinology, Diabetes and Metabolism ,gluconate calcium ,Pseudohypoaldosteronism ,electrolyte ,Sodium Channels ,SWEAT ,Endocrinology ,Pulmonary surfactant ,pseudohypoaldosteronism type 1 ,Epithelial Sodium Channels ,Humans ,Infant, Newborn ,Pseudohypoaldosteronism/*complications/genetics ,Respiratory Distress Syndrome, Newborn/*etiology ,Sodium Channels/genetics ,electrolyte disturbance ,gene mutation ,gestational age ,sodium absorption ,fludrocortisone ,Respiratory distress ,antibiotic prophylaxis ,adult ,pathogenesis ,article ,sodium ion ,respiratory system ,lung alveolus epithelium ,female ,sodium chloride ,Gestation ,medicine.symptom ,Hyponatremia ,medicine.medical_specialty ,Respiratory distress syndrome ,cefotaxime ,surfactant ,bicarbonate ,parenteral nutrition ,aldosterone blood level ,male ,Internal medicine ,medicine ,case report ,polystyrenesulfonate sodium ,human ,Respiratory Distress Syndrome, Newborn ,aldosterone ,kidney tubule ,business.industry ,prematurity ,dehydration ,medicine.disease ,hyperkalemia ,respiratory distress syndrome ,pseudohypoaldosteronism ,epithelial ,Pediatrics, Perinatology and Child Health ,ampicillin ,business ,epithelium cell - Abstract
We present a patient born at 31 weeks gestation with respiratory distress syndrome (RDS) which did not respond to surfactant. He also developed hyponatremia, hyperkalemia and dehydration with increased sweat electrolytes despite high levels of serum aldosterone, thus systemic pseudohypoaldosteronism type 1 (PHA-1) diagnosis was made. Systemic PHA-1 is caused by mutations of amiloride-sensitive epithelial sodium channel (ENaC) genes. Because ENaC is a rate-limiting step for sodium absorption by epithelial cells, not only of the renal tubule but also of the lung epithelium, patients with PHA-1 with pulmonary symptoms have sometimes been reported. However, our patient appears to be the second reported human case of both neonatal RDS and PHA-1, and the first description, with increased sweat electrolytes, of a premature baby with systemic PHA-1 and RDS.
- Published
- 2002