Case series of kidney transplantation in two pediatric recipients with rare genetic diseases and intellectual disability

被引：0
作者：
Mata, Marina [1 ,2 ,3 ]
Tabbara, Marina M. [1 ,2 ]
Alvarez, Angel [2 ]
Chandar, Jayanthi [4 ]
Defreitas, Marissa [4 ]
Ciancio, Gaetano [1 ,2 ,5 ]
机构：
[1] Univ Miami, Miller Sch Med, Jackson Mem Hosp, Dept Surg, Miami, FL 33136 USA
[2] Univ Miami, Miller Sch Med, Jackson Mem Hosp, Miami Transplant Inst, Miami, FL 33136 USA
[3] Hosp Ramon & Cajal, Unidad Cirugia Renal Trasplante & Invest, Madrid, Spain
[4] Univ Miami, Miller Sch Med, Jackson Mem Hosp, Div Pediat Nephrol, Miami, FL 33136 USA
[5] Univ Miami, Miller Sch Med, Jackson Mem Hosp, Dept Surg & Urol, Miami, FL 33136 USA
来源：
BMC PEDIATRICS | 2024年 / 24卷 / 01期
关键词：
Pediatric kidney transplantation; Oral-facial-digital syndrome type 1; Rare genetic disease; Case report; DIGITAL SYNDROME TYPE-1; RENAL-TRANSPLANTATION; COL4A1; MUTATIONS; INDUCTION THERAPY; CHILDREN; FAMILIES; OFD1;
D O I：
10.1186/s12887-024-05304-x
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
BackgroundKidney transplantation is the gold standard treatment for end-stage kidney disease in children. Rare genetic systemic diseases associated with cystic kidney disease such as COL4A1-related disorder and oral facial digital syndrome type 1 could contribute to end-stage kidney disease in the pediatric population but there is scarce evidence in the literature regarding kidney transplant outcomes in these cases.Case presentationWe report a case of a 5-year-old male with COL4A1-related disorder who received a living-related donor kidney transplant from his mother. To our knowledge this is the first reported kidney transplant in a pediatric recipient with COL4A1-related disorder. We also present a case of a 16-year-old female with oral facial digital syndrome type 1 who received a deceased donor kidney transplant.ConclusionsIn this case series, we discuss surgical technique, indication for kidney transplant, influence of comorbidities and intellectual disability in transplant outcomes.
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页数：8
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  • [1] Shroff R., Ledermann S., Long-term outcome of chronic dialysis in children, Pediatr Nephrol, 24, 3, pp. 463-474, (2009)
  • [2] McEnery P.T., Stablein D.M., Arbus G., Tejani A., Renal transplantation in children. A report of the North American Pediatric Renal Transplant Cooperative Study, N Engl J Med, 326, 26, pp. 1727-1732, (1992)
  • [3] Schild R., Dupont S., Harambat J., Et al., Disparities in treatment and outcome of kidney replacement therapy in children with comorbidities: an ESPN/ERA Registry study, Clin Kidney J, 16, 4, pp. 745-755, (2023)
  • [4] Iyengar A., Lanewala A.A., Shirol P.B., Pais P., Rare Kidney Diseases: Children Being Left out in the Cold
  • [5] Meuwissen M.E., Halley D.J., Smit L.S., Et al., The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature, Genet Med, 17, 11, pp. 843-853, (2015)
  • [6] Landrum M.K., Lee J.M., Benson M., Et al., ClinVar: public archive of interpretations of clinically relevant variants, Nucleic Acids Res, 44, D1, pp. D862-D868, (2016)
  • [7] Ciancio G., Farag A., Gonzalez J., Vincenzi P., Gaynor J.J., Results of a previously unreported extravesical ureteroneocystostomy technique without ureteral stenting in 500 consecutive kidney transplant recipients, PLoS ONE, 16, 1, (2021)
  • [8] Vahedi K., Alamowitch S., Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease, Curr Opin Neurol, 24, pp. 63-68, (2011)
  • [9] Breedveld G., de Coo I.F., Lequin M.H., Et al., Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly, J Med Genet, 43, pp. 490-495, (2006)
  • [10] Plaisier E., Gribouval O., Alamowitch S., Et al., COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms and cramps (HANAC) syndrome, N Engl J Med, 357, pp. 2687-2695, (2007)
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