RMND1 mutations in two siblings: Severe renal hypoplasia but different levels of extrarenal abnormality severity: The ethics of decision making - 08/09/19

Doi : 10.1016/j.arcped.2019.08.004

E. Broenen ^a, B. Ranchin ^a, C. Besmond ^f, C. Freychet ^a, A. Fouilhoux ^b, T. Perouse de Montclos ^c, D. Ville ^d, J. Bacchetta ^a,^e,⁎
^a Centre de référence des maladies rénales rares, hôpital femme-mère-enfant, hospices civils de Lyon, 69677 Bron cedex, France
^b Centre de référence des maladies métaboliques héréditaires, hôpital femme-mère-enfant, hospices civils de Lyon, 69677 Bron cedex, France
^c Service de cardiologie pédiatrique, hôpital Louis-Pradel, hospices civils de Lyon, 69677 Bron cedex, France
^d Service de neurologie pédiatrique, hôpital femme-mère-enfant, hospices civils de Lyon, 69677 Bron cedex, France
^e Faculté de médecine Lyon Est, université Lyon 1, 69373 Lyon cedex 08, France
^f Inserm UMR1163, institut imagine, génétique translationnelle, université de Paris, 75015 Paris, France

^⁎Corresponding author. Service de néphrologie rhumatologie dermatologie pédiatriques, centre de référence des maladies rénales rares, hôpital femme-mère-enfant, 59, boulevard Pinel, 69677 Bron cedex, France.Service de néphrologie rhumatologie dermatologie pédiatriques, centre de référence des maladies rénales rares, hôpital femme-mère-enfant59, boulevard PinelBron cedex69677France

En prensa. Pruebas corregidas por el autor. Disponible en línea desde el Sunday 08 September 2019
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Abstract

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.

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Keywords : Chronic kidney disease, Renal hypoplasia, Mitochondrial disease, RMND1 gene, Ethical issues and children