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.

引用

页数：8

共 32 条

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