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...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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SAGE Publishing
2023-10-01
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| Series: | SAGE Open Medical Case Reports |
| Online Access: | https://doi.org/10.1177/2050313X231201724 |
| _version_ | 1797666122338664448 |
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| author | Maria Elvira Yupanqui Camila Schrader-Florez Sofía López-Ramírez Laura Valenzuela-Vallejo Andrés Perez-Barreto Camila Céspedes Salazar Catalina Forero Ronderos Paola Durán Ventura |
| author_facet | Maria Elvira Yupanqui Camila Schrader-Florez Sofía López-Ramírez Laura Valenzuela-Vallejo Andrés Perez-Barreto Camila Céspedes Salazar Catalina Forero Ronderos Paola Durán Ventura |
| author_sort | Maria Elvira Yupanqui |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-11T19:53:43Z |
| format | Article |
| id | doaj.art-ca009166122e4525b907c9775c407b27 |
| institution | Directory Open Access Journal |
| issn | 2050-313X |
| language | English |
| last_indexed | 2024-03-11T19:53:43Z |
| publishDate | 2023-10-01 |
| publisher | SAGE Publishing |
| record_format | Article |
| series | SAGE Open Medical Case Reports |
| spelling | doaj.art-ca009166122e4525b907c9775c407b272023-10-04T21:03:25ZengSAGE PublishingSAGE Open Medical Case Reports2050-313X2023-10-011110.1177/2050313X231201724Congenital hyperreninemic hypoaldosteronism: A case reportMaria Elvira Yupanqui0Camila Schrader-Florez1Sofía López-Ramírez2Laura Valenzuela-Vallejo3Andrés Perez-Barreto4Camila Céspedes Salazar5Catalina Forero Ronderos6Paola Durán Ventura7Fundación Universitaria Ciencias de la Salud, Endociencia, Bogotá, Cundinamarca, ColombiaDepartment of Pediatrics, Fundación Cardioinfantil—Instituto de Cardiología, Bogotá, ColombiaDepartment of Pediatrics, Fundación Cardioinfantil—Instituto de Cardiología, Bogotá, ColombiaDepartment of Endocrinology, Fundación Cardioinfantil—Instituto de Cardiología, Bogotá, ColombiaPediatrician, Universidad de la Sabana, Chía, Cundinamarca, ColombiaHospital Universitario Fundación Santa Fe, Hospital Universitario San Ignacio, Bogotá, ColombiaPediatric Endocrinologist, Endociencia, Hospital Universitario Fundación Santa Fe, Hospital Universitario San Ignacio, Bogotá, ColombiaEndociencia, Bogotá, ColombiaCongenital 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.https://doi.org/10.1177/2050313X231201724 |
| spellingShingle | Maria Elvira Yupanqui Camila Schrader-Florez Sofía López-Ramírez Laura Valenzuela-Vallejo Andrés Perez-Barreto Camila Céspedes Salazar Catalina Forero Ronderos Paola Durán Ventura Congenital hyperreninemic hypoaldosteronism: A case report SAGE Open Medical Case Reports |
| 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 |
| url | https://doi.org/10.1177/2050313X231201724 |
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