RMND1 mutations in two siblings: Severe renal hypoplasia but different levels of extrarenal abnormality severity: The ethics of decision making
| Autor: | T. Perouse de Montclos, Justine Bacchetta, Bruno Ranchin, E. Broenen, C. Besmond, C. Freychet, D. Ville, Alain Fouilhoux |
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| Přispěvatelé: | Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon |
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
Male
Heterozygote Pediatrics medicine.medical_specialty Mitochondrial Diseases medicine.medical_treatment Mitochondrial disease [SDV]Life Sciences [q-bio] Clinical Decision-Making Cell Cycle Proteins Context (language use) Disease Compound heterozygosity Severity of Illness Index 03 medical and health sciences Fatal Outcome 0302 clinical medicine 030225 pediatrics medicine Humans Renal replacement therapy business.industry Siblings medicine.disease Renal hypoplasia 3. Good health Phenotype Mitochondrial respiratory chain Mutation Pediatrics Perinatology and Child Health Kidney Failure Chronic Female Abnormality business |
| Zdroj: | Archives de Pédiatrie Archives de Pédiatrie, Elsevier, 2019, 26, pp.377-380. ⟨10.1016/j.arcped.2019.08.004⟩ |
| ISSN: | 0929-693X 1769-664X |
| DOI: | 10.1016/j.arcped.2019.08.004⟩ |
| Popis: | Mutations in the RMND1 gene, causing defects in the mitochondrial respiratory chain, result in a very heterozygous phenotype. Currently there are 36 cases reported in the literature. We report two siblings from a non-consanguineous family who were severely affected by a compound heterozygous RMND1 mutation that had not been described previously and were treated differently for their end-stage renal disease. We summarize all previous published cases and focus on the importance of extrarenal comorbidities in the context of therapeutic decision making (renal replacement therapy) and its ethical relevance. |
| Databáze: | OpenAIRE |
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