两名患有罕见遗传病和智力残疾的儿科肾移植受者的病例系列。
Case series of kidney transplantation in two pediatric recipients with rare genetic diseases and intellectual disability.
作者信息
Mata Marina, Tabbara Marina M, Alvarez Angel, Chandar Jayanthi, Defreitas Marissa, Ciancio Gaetano
机构信息
Department of Surgery, University of Miami Miller School of Medicine, Jackson Memorial Hospital, Miami, FL, USA.
Miami Transplant Institute, University of Miami Miller School of Medicine, Jackson Memorial Hospital, Miami, FL, USA.
出版信息
BMC Pediatr. 2024 Dec 19;24(1):823. doi: 10.1186/s12887-024-05304-x.
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.
背景
肾移植是儿童终末期肾病的金标准治疗方法。与多囊肾病相关的罕见遗传性全身性疾病，如COL4A1相关疾病和1型口面指综合征，可能导致儿童人群终末期肾病，但文献中关于这些病例肾移植结果的证据很少。
病例报告
我们报告了一例5岁男性COL4A1相关疾病患者，他接受了来自其母亲的活体亲属供肾移植。据我们所知，这是首例报道的患有COL4A1相关疾病的儿科受者肾移植病例。我们还介绍了一例16岁女性1型口面指综合征患者，她接受了尸体供肾移植。
结论
在本病例系列中，我们讨论了手术技术、肾移植指征、合并症和智力残疾对移植结果的影响。
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