New-onset diabetes after renal transplantation in a patient with a novel HNF1B mutation
New-onset diabetes after renal transplantation in a patient with a novel HNF1B mutation
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具有新型 HNF1B 突变的患者肾移植后新发糖尿病
DOI：
10.1111/petr.12690
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发表时间：
2016
影响因子：
1.3
通讯作者：
Hattori M.
中科院分区：
文献类型：
--
作者：
Kanda S;Morisada N;Kaneko N;Yabuuchi T;Nawashiro Y;Tada N;Nishiyama K;Miyai T;Sugawara N;Ishizuka K;Chikamoto H;Akioka Y;Iijima K;Hattori M.
CAKUT是儿童ESRD最常见的原因。HNF1B是一种参与器官发育和维持的转录因子，编码HNF1B的基因突变会导致多系统疾病，包括CAKUT、糖尿病和肝功能障碍。在这里，我们描述的情况下，肾发育不全的病人谁开发NODAT表现为肝功能障碍。NODAT最初被认为与类固醇和FK有关。然而，根据患者的临床特征，包括肾发育不全和转氨酶反复升高，进行了HNF 1B突变筛查。直接测序鉴定了HNF 1B的一个新的剪接突变，命名为c.344 + 2T> C。由于CAKUT是儿童ESRD的主要原因，HNF 1B突变可导致肾发育不良和糖尿病，因此HNF 1B突变可能是接受肾移植的儿科患者中NODAT病例的一部分。NODAT是实体器官移植的严重和主要并发症，与移植物存活率降低有关。因此，对于肾移植的适当管理，应考虑在发生NODAT并显示肾外症状的CAKUT引起移植的儿科患者中筛查HNF 1B突变。
CAKUT are the most frequent causes of ESRD in children. Mutations in the gene encodingHNF1B, a transcription factor involved in organ development and maintenance, cause a multisystem disorder that includes CAKUT, diabetes, and liver dysfunction. Here, we describe the case of a patient with renal hypodysplasia who developed NODAT presenting with liver dysfunction. The NODAT was initially thought to be steroid and FK related. However, based on the patient's clinical features, including renal hypodysplasia and recurrent elevations of transaminase, screening for anHNF1Bmutation was performed. Direct sequencing identified a novel splicing mutation ofHNF1B, designated c.344 + 2T>C. Because CAKUT is the leading cause of ESRD in children andHNF1Bmutations can cause both renal hypodysplasia and diabetes,HNF1Bmutations may account for a portion of the cases of NODAT in pediatric patients who have undergone kidney transplantation. NODAT is a serious and major complication of solid organ transplantation and is associated with reduced graft survival. Therefore, for the appropriate management of kidney transplantation, screening forHNF1Bmutations should be considered in pediatric patients with transplants caused by CAKUT who develop NODAT and show extra‐renal symptoms.