ArticleTranslational pediatrics2026
Clinical and molecular characteristics of a series of Chinese children with pseudohypoaldosteronism: a case series.
Article in Translational pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Pseudohypoaldosteronism (PHA) is a rare disorder characterized by renal resistance to mineralocorticoids, leading to hyperkalemia, hyponatremia, and metabolic acidosis. It is primarily classified into type I (PHAI), with subtypes including renal (caused by Case Description: We present six unrelated Chinese children with PHA. Genetic testing enabled precise etiological classification: two with autosomal recessive systemic PHAI (harboring Conclusions: In this study, we present six patients with different types of PHA (PHAI and PHAII), and describe their unique phenotypic, genetic characteristics. Our findings compellingly demonstrate that genetic testing is indispensable for precise subtyping, which in turn directs etiology-specific management and enables accurate prognostication, thereby optimizing long-term outcomes for affected children.
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