Congenital hyperreninemic hypoaldosteronism: A case report
Maria Elvira Yupanqui,
Camila Schrader-Florez,
Sofía López-Ramírez
et al.
Abstract:Congenital hypoaldosteronism is a rare autosomal recessive or dominant endocrinopathy with variable penetrance, secondary to primary defects in aldosterone synthesis that could lead to hypovolemia, hyponatremia, hyperkalemia, failure to thrive, microcephaly, seizures, neurodevelopmental delay, or hearing loss. We present the case of a Colombian patient with congenital hypoaldosteronism, who owns two variants in the CPY11B2 gene, and a heterozygous pathogenic variant for nonclassical congenital adrenal hyperpla… Show more
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