Distal Renal Tubular Acidosis in an Iranian Patient with Hereditary Spherocytosis
| Autor: | Shahab-Movahed, Zahra, Majd, Ahmad, Siasi Torbati, Elham, Zeinali, Sirous |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Adult
Ankyrins Male Erythrocytes Adolescent Base Sequence Full Length Hereditary spherocytosis Acidosis Renal Tubular Spherocytosis Hereditary Iran Pedigree Whole-exome sequencing Child Preschool Mutation Humans Female Erythrocyte membrane protein Hemolytic anemia Child Kidney Tubules Distal Follow-Up Studies |
| Zdroj: | Iranian Biomedical Journal |
| ISSN: | 2008-823X 1028-852X |
| Popis: | Hereditary spherocytosis (HS) and hereditary hereditary distal renal tubular acidosis (dRTA) are associated with mutations in the SLC4A1 gene encoding the anion exchanger 1. In this study, some patients with clinical evidence of congenital HS and renal symptoms were investigated.Twelve patients with congenital HS and renal symptoms were recruited from Ali-Asghar Children’s Hospital (Tehran, Iran). A patient suspected of having dRTA was examined using whole exome sequencing method, followed by Sanger sequencing.One patient (HS03) showed severe failure to thrive, short stature, frequent urinary infection, and weakness. A homozygote (rs571376371 for c.2494CT; p.Arg832Cys) and a heterozygote (rs377051298 for c.466CT; p.Arg156Trp) missense variant were identified in the SLC4A1 and SPTA1 genes, respectively. The compound heterozygous mutations manifested as idRTA and severe HS in patient HS03.Our observations, for the first time, revealed clinical and genetic characteristics of idRTA and severe HS in an Iranian patient HS03. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|