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Congenital hyperreninemic hypoaldosteronism: A case report

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 he...

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Autores principales: Yupanqui, Maria Elvira, Schrader-Florez, Camila, López-Ramírez, Sofía, Valenzuela-Vallejo, Laura, Perez-Barreto, Andrés, Céspedes Salazar, Camila, Forero Ronderos, Catalina, Durán Ventura, Paola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10552448/
https://www.ncbi.nlm.nih.gov/pubmed/37811351
http://dx.doi.org/10.1177/2050313X231201724
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author Yupanqui, Maria Elvira
Schrader-Florez, Camila
López-Ramírez, Sofía
Valenzuela-Vallejo, Laura
Perez-Barreto, Andrés
Céspedes Salazar, Camila
Forero Ronderos, Catalina
Durán Ventura, Paola
author_facet Yupanqui, Maria Elvira
Schrader-Florez, Camila
López-Ramírez, Sofía
Valenzuela-Vallejo, Laura
Perez-Barreto, Andrés
Céspedes Salazar, Camila
Forero Ronderos, Catalina
Durán Ventura, Paola
author_sort Yupanqui, Maria Elvira
collection PubMed
description 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 hyperplasia. However, the patient missed follow-up and treatment for 6 years. At the age of 7 years, he resumed medical follow-up with laboratory findings of hyperreninemia and hypoaldosteronism, as well as clinical findings of strabismus, left mixed hyperacusis, and pathological short stature (−4.3 SD). Therefore, a trial of fludrocortisone therapy was started with subsequent improvement in renin levels, weight gain, and growth velocity. After 10 months of the start of the medication, he presented hypertension. There is no literature about the late treatment of this condition for pathological short stature.
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spelling pubmed-105524482023-10-06 Congenital hyperreninemic hypoaldosteronism: A case report Yupanqui, Maria Elvira Schrader-Florez, Camila López-Ramírez, Sofía Valenzuela-Vallejo, Laura Perez-Barreto, Andrés Céspedes Salazar, Camila Forero Ronderos, Catalina Durán Ventura, Paola SAGE Open Med Case Rep Case Report 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 hyperplasia. However, the patient missed follow-up and treatment for 6 years. At the age of 7 years, he resumed medical follow-up with laboratory findings of hyperreninemia and hypoaldosteronism, as well as clinical findings of strabismus, left mixed hyperacusis, and pathological short stature (−4.3 SD). Therefore, a trial of fludrocortisone therapy was started with subsequent improvement in renin levels, weight gain, and growth velocity. After 10 months of the start of the medication, he presented hypertension. There is no literature about the late treatment of this condition for pathological short stature. SAGE Publications 2023-10-04 /pmc/articles/PMC10552448/ /pubmed/37811351 http://dx.doi.org/10.1177/2050313X231201724 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Case Report
Yupanqui, Maria Elvira
Schrader-Florez, Camila
López-Ramírez, Sofía
Valenzuela-Vallejo, Laura
Perez-Barreto, Andrés
Céspedes Salazar, Camila
Forero Ronderos, Catalina
Durán Ventura, Paola
Congenital hyperreninemic hypoaldosteronism: A case report
title Congenital hyperreninemic hypoaldosteronism: A case report
title_full Congenital hyperreninemic hypoaldosteronism: A case report
title_fullStr Congenital hyperreninemic hypoaldosteronism: A case report
title_full_unstemmed Congenital hyperreninemic hypoaldosteronism: A case report
title_short Congenital hyperreninemic hypoaldosteronism: A case report
title_sort congenital hyperreninemic hypoaldosteronism: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10552448/
https://www.ncbi.nlm.nih.gov/pubmed/37811351
http://dx.doi.org/10.1177/2050313X231201724
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