1.A case of wild-type transthyretin cardiac amyloidosis.
Ying QIN ; Xiao Lu SUN ; Dong WANG ; Wen JIANG ; Hong Yue WANG ; Xiao Xin SUN ; Wei FANG ; Jian LI ; Zhuang TIAN ; Lei SONG ; Lian Ming KANG
Chinese Journal of Cardiology 2021;49(10):1023-1026
4.Hereditary Transthyretin Amyloidosis in Eight Chinese Families.
Ling-Chao MENG ; He LYU ; Wei ZHANG ; Jing LIU ; Zhao-Xia WANG ; Yun YUAN
Chinese Medical Journal 2015;128(21):2902-2905
BACKGROUNDMutations of transthyretin (TTR) cause the most common type of autosomal-dominant hereditary systemic amyloidosis, which occurs worldwide. To date, more and more mutations in the TTR gene have been reported. Some variations in the clinical presentation are often observed in patients with the same mutation or the patients in the same family. The purpose of this study was to find out the clinicopathologic and genetic features of Chinese patients with hereditary TTR amyloidosis.
METHODSClinical and necessary examination materials were collected from nine patients of eight families with hereditary TTR amyloidosis at Peking University First Hospital from January 2007 to November 2014. Sural nerve biopsies were taken for eight patients and skin biopsies were taken in the calf/upper arm for two patients, for light and electron microscopy examination. The TTR genes from the nine patients were analyzed.
RESULTSThe onset age varied from 23 to 68 years. The main manifestations were paresthesia, proximal and/or distal weakness, autonomic dysfunction, cardiomyopathy, vitreous opacity, hearing loss, and glossohypertrophia. Nerve biopsy demonstrated severe loss of myelinated fibers in seven cases and amyloid deposits in three. One patient had skin amyloid deposits which were revealed from electron microscopic examination. Genetic analysis showed six kinds of mutations of TTR gene, including Val30Met, Phe33Leu, Ala36Pro, Val30Ala, Phe33Val, and Glu42Gly in exon 2.
CONCLUSIONSSince the pathological examinations of sural nerve were negative for amyloid deposition in most patients, the screening for TTR mutations should be performed in all the adult patients, who are clinically suspected with hereditary TTR amyloidosis.
Adult ; Aged ; Aged, 80 and over ; Amyloid Neuropathies, Familial ; diagnosis ; genetics ; Asian Continental Ancestry Group ; Female ; Humans ; Male ; Middle Aged ; Mutation ; genetics ; Pedigree ; Prealbumin ; genetics
5.Clinical and genetic analysis of three families with familiar amyloid polyneuropathy.
Yan-feng LI ; Hou NG ; Iok U SUN ; Waii LEONG
Chinese Medical Sciences Journal 2008;23(4):230-233
OBJECTIVETo study the clinical and genetic features of familiar amyloid polyneuropathy (FAP).
METHODSThree families of suspected FAP in China mainland and Macau were investigated on aspects of clinical manifestations, histological features, and gene analysis.
RESULTSAll the 3 families had the clinical features of sensory and motor polyneuropathies, and notable vegetative nerve involvements. Affected cases of one family had ultrasound proved cardiomyopathy. Histological studies showed amyloid deposition in all the biopsy tissues of the affected cases of the 3 families, and anti-transthyretin antisera staining was positive in 3 cases of one family. Gene analysis confirmed that mutation types were amyloidogenic transthyretin (ATTR) Val30Met, Phe33Val, and Gly67Glu in the 3 families respectively. The ATTR Gly67Glu family had a shorter survival time due to the heart involvement compared with the other 2 families.
CONCLUSIONFAP is an autosomal dominant inherited disease, with its clinical manifestations related to the type of genetic mutation.
Adult ; Amyloid Neuropathies, Familial ; genetics ; pathology ; China ; DNA Mutational Analysis ; Female ; Genetic Predisposition to Disease ; Humans ; Male ; Middle Aged ; Mutation ; Pedigree ; Phenotype ; Prealbumin ; genetics
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