RMND1 mutations in two siblings: Severe renal hypoplasia but different levels of extrarenal abnormality severity: The ethics of decision making

• Published in: Archives de pédiatrie : organe officiel de la Société française de pédiatrie 2019-09, Vol.26 (6), p.377-380
• Main Authors: Broenen, E., Ranchin, B., Besmond, C., Freychet, C., Fouilhoux, A., Perouse de Montclos, T., Ville, D., Bacchetta, J.
• Format: Article
• Language: English
• Subjects: Cell Cycle Proteins - genetics; Chronic kidney disease; Clinical Decision-Making - ethics; Ethical issues and children; Fatal Outcome; Female; Heterozygote; Humans; Kidney Failure, Chronic - diagnosis; Kidney Failure, Chronic - genetics; Kidney Failure, Chronic - therapy; Life Sciences; Male; Mitochondrial disease; Mitochondrial Diseases - diagnosis; Mitochondrial Diseases - genetics; Mitochondrial Diseases - therapy; Mutation; Phenotype; Renal hypoplasia; RMND1 gene; Severity of Illness Index; Siblings
• ISSN: 0929-693X; 1769-664X
• DOI: 10.1016/j.arcped.2019.08.004

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.