An infant case of pseudohypoaldosteronism type1A caused by a novel NR3C2 variant
| Autor: | Kohei Aoyama, Naoya Yamaguchi, Jun Okamura, Saki Noda, Yuto Kondo, Yoshishige Miyake, Atsushi Suzuki, Aya Yoshida |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
medicine.medical_specialty
Hyperkalemia Period (gene) QH426-470 Poor weight gain Biochemistry Mineralocorticoid receptor Life QH501-531 Internal medicine Genetics medicine Data Report Molecular Biology Heterozygous mutation Genetic counselling business.industry Pseudohypoaldosteronism nutritional and metabolic diseases Endocrine system and metabolic diseases medicine.disease Endocrinology medicine.symptom business Haploinsufficiency Hyponatremia |
| Zdroj: | Human Genome Variation Human Genome Variation, Vol 8, Iss 1, Pp 1-3 (2021) |
| ISSN: | 2054-345X |
| Popis: | Pseudohypoaldosteronism type1A (PHA1A) is the renal form of pseudohypoaldosteronism with autosomal dominant inheritance. PHA1A is caused by haploinsufficiency of the mineralocorticoid receptor, which is encoded by NR3C2. We encountered an infant who was diagnosed with PHA1A due to hyponatremia, hyperkalemia, and poor weight gain in the neonatal period. She carried a novel heterozygous mutation (NM_000901.5: c.1757 + 1 G > C) in the splice donor site of IVS-2 in NR3C2. |
| Databáze: | OpenAIRE |
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