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

Background: Kidney 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 presentation: We 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.

Conclusions: In this case series, we discuss surgical technique, indication for kidney transplant, influence of comorbidities and intellectual disability in transplant outcomes.