PDF(Pubmed)
Abstract：
Background: Ciliopathies are rare diseases causing renal and extrarenal manifestations. Here, we report the case of a ciliopathy induced by a homozygous pathogenic variant in the TTC21B gene. Case Description: A 47-year-old patient started hemodialysis for chronic kidney disease (CKD) of unknown origin. She presented with early onset of hypertension, pre-eclampsia, myopia and cirrhosis. Renal biopsy showed mild interstitial fibrosis, tubular atrophy, and moderate arteriosclerosis while liver pathology demonstrates grade B biliary cirrhosis. Family history revealed several cases of early-onset severe hypertension and one case of end-stage renal disease (ESRD) needing kidney transplantation at twenty years of age. Clinical exome sequencing showed homozygosis for the pathogenic variant c.626C>T (p.Pro209Leu) in the TTC21B gene. The patient underwent combined liver-renal transplantation with an excellent renal and hepatic graft outcome. Conclusions: TTC21B gene mutations can lead heterogeneous to clinical manifestations and represent an underappreciated cause of ESRD. The paradigm in diagnosis of CKD of early onset and/or of unknown origin is changing and genetic counseling should be performed in all patients and families that meet those criteria. Renal or combined liver-renal transplantation represents the best option for patients suffering from those diseases in terms of prognosis and quality of life.
摘要：
背景：纤毛病是引起肾脏和肾外表现的罕见疾病。这里,我们报道了由TTC21B基因纯合致病变体诱导的纤毛病病例。病例描述：一名47岁的患者因不明原因的慢性肾脏病（CKD）开始血液透析。她出现了早发高血压,先兆子痫,近视和肝硬化。肾活检显示轻度间质纤维化,肾小管萎缩,和中度动脉硬化，而肝脏病理显示B级胆汁性肝硬化。家族史显示，几例早发性重度高血压和一例终末期肾病（ESRD），需要在20岁时进行肾脏移植。临床外显子组测序显示致病性变异c.626C>T纯合性（p。Pro209Leu)在TTC21B基因中。该患者接受了肝肾联合移植，肾脏和肝脏移植效果良好。结论：TTC21B基因突变可导致临床表现的异质性，并代表ESRD的一个未被重视的原因。早期发病和/或来源不明的CKD的诊断范式正在发生变化，应在所有符合这些标准的患者和家庭中进行遗传咨询。就预后和生活质量而言，肾脏或肝肾联合移植是患有这些疾病的患者的最佳选择。
