Xu Jing, Yang Meng, Pan Xiaoxia, Yu Xialian, Xie Jingyuan, Ren Hong, Li Xiao, Chen Nan
Institute of Nephrology, Department of Nephrology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, PR China.
Medicine (Baltimore). 2017 Mar;96(10):e5737. doi: 10.1097/MD.0000000000005737.
Hereditary amyloidosis is diagnosed worldwidely with an increasing incidence. As the most common form, transthyretin-related hereditary amyloidosis (ATTR amyloidosis) is an autosomal dominant inherited disease due to mutations of TTR. Over the past several decades, more than 130 mutations have been reported. Previous studies suggested that ATTR amyloidosis initially showed polyneuropathy and autonomic dysfunction but later involving many visceral organs, such as kidney.
A young proband carrying TTR p.Leu75Pro mutation, a reported aggressive variant, initially presenting repeat vomiting and impaired renal function was described in a Chinese family.
ATTR amyloidosis patient was diagnosed by renal biopsy and gene sequencing.
Allograft liver transplantation (LT).
Symptom relief but serum creatinine increased.
This case illustrated the clinical and pathologic phenotype of an ATTR amyloidosis patient who initially presented impaired renal function and p.Leu75Pro variant was found by sequencing the coding region of TTR gene. Kidney is one of the most common and vulnerable organs of amyloidosis, and renal function should be closely monitored.
遗传性淀粉样变性在全球范围内均有诊断，且发病率呈上升趋势。作为最常见的类型，转甲状腺素蛋白相关遗传性淀粉样变性（ATTR淀粉样变性）是一种由于转甲状腺素蛋白（TTR）突变导致的常染色体显性遗传病。在过去几十年中，已报道了130多种突变。先前的研究表明，ATTR淀粉样变性最初表现为多发性神经病和自主神经功能障碍，但随后会累及许多内脏器官，如肾脏。
在中国一个家庭中描述了一名携带TTR p.Leu75Pro突变（一种已报道的侵袭性变异）的年轻先证者，最初表现为反复呕吐和肾功能受损。
通过肾活检和基因测序诊断为ATTR淀粉样变性患者。
同种异体肝移植（LT）。
症状缓解，但血清肌酐升高。
本病例说明了一名ATTR淀粉样变性患者的临床和病理表型，该患者最初表现为肾功能受损，通过对TTR基因编码区进行测序发现了p.Leu75Pro变异。肾脏是淀粉样变性最常见且最易受累的器官之一，应密切监测肾功能。
