遗传性角质瘤,全名为瀰漫性体部血管角质瘤（angiokeratoma corporis diffu-sum umuersale）又名Fabry氏病。Fabry及Anderson二氏于1898年首先报导,嗣后人们不再认为该病为皮肤病,而是一种全身性疾病。近年来研究证明为X连锁隐性遗传病...遗传性角质瘤,全名为瀰漫性体部血管角质瘤（angiokeratoma corporis diffu-sum umuersale）又名Fabry氏病。Fabry及Anderson二氏于1898年首先报导,嗣后人们不再认为该病为皮肤病,而是一种全身性疾病。近年来研究证明为X连锁隐性遗传病。本文报告一例男孩,并就发病机制、生化过程、临床特点予以讨论。展开更多
Objective: To determine the significance of the dermatologic and systemic abnormalities found in 11 patients with Fabry disease (FD) which is an X-linked lysosomal storage disorder caused by the partial or complete de...Objective: To determine the significance of the dermatologic and systemic abnormalities found in 11 patients with Fabry disease (FD) which is an X-linked lysosomal storage disorder caused by the partial or complete deficiency of the α-galactosidase A enzyme. This defect leads to the accumulation of uncleaved glycosphingolipids throughout vascular endothelium and visceral tissues. Design: Case series. Setting: Pediatric Dermatology Division, Ramos Mejia Hospital (primary care center) and Laboratory of Neurochemistry (referral center for metabolic diseases). Patients: Eleven patients with FDwere studied: 6 hemizygous men (mean age, 23.0 years) and 5 heterozygous women (mean age, 49.4 years). Results: Mucocutaneous angiokeratomas (AKs) were found in 5 (83%) of 6hemizygotes and 4 (80%) of 5 heterozygotes. The AKs appeared at an average age of 13 years, affecting predominantly genitalia, back, elbows, and other frequently traumatized areas. All the hemizygotes and none of the heterozygotes suffered from hypohidrosis. Angiokeratomas on the trunk and oral mucosa without sweat abnormalities were detected in 80%of heterozygous women. All hemizygotic men presented with acral pain in childhood. Conclusion: We emphasizethe valueof early recognition of AKs and hypohidrosis as diagnostic clues to FD, a severe and progressive disorder.展开更多
Background: Classic Fabry disease, an X-linked recessive lysosomal storage disease due to the deficient activity of α -galactosidase A, typically presents in early childhood with acroparesthesias, angiokeratomas, hyp...Background: Classic Fabry disease, an X-linked recessive lysosomal storage disease due to the deficient activity of α -galactosidase A, typically presents in early childhood with acroparesthesias, angiokeratomas, hypohidrosis, and corneal dystrophy. The neuropathic pain presumably results from glycosphingolipid accumulation in the vascular endothelium and in small-caliber nerve fibers, and is treatable by enzyme replacement therapy. Later-onset variants with residual α -galactosidase A activity lack vascular endothelial involvement and classic symptoms, which lead to the development of cardiac and/or renal disease after the fourth decade of life. Objective: To expand the later-onset Fabry phenotype to include cramp-fasciculation syndrome without small-fiber neuropathy. Methods: A 34- year-old man who presented with chronic exercise-induced pain, fasciculations, and cramps of the feet and legs, and his similarly affected mother, were evaluated. Clinical, biochemical, and molecular studies were performed. Results: Clinical evaluation suggested the diagnosis of Fabry disease, which was confirmed by reduced plasma and leukocyte α -galactosidase A activities (8.8% and 13.4% of normal, respectively) due to a missense A143T mutation. His mother was heterozygous for the A143T mutation. Conclusion: The presentation of cramps and fasciculations without apparent small-fiber neuropathy expands the phenotype of later-onset Fabry disease.展开更多
Fabry病是由于溶酶体中水解酶α-半乳糖苷酶A（α-galactosidaseA）缺乏，导致糖（神经）鞘脂[glycosphingolipid，主要成分为神经醯胺己三糖苷globotriaosylceramide（Gb3）]蓄积而导致多系统受累的疾病。临床以特征的皮肤改变（血管...Fabry病是由于溶酶体中水解酶α-半乳糖苷酶A（α-galactosidaseA）缺乏，导致糖（神经）鞘脂[glycosphingolipid，主要成分为神经醯胺己三糖苷globotriaosylceramide（Gb3）]蓄积而导致多系统受累的疾病。临床以特征的皮肤改变（血管角质瘤）、感觉异常、肾功能衰竭等为主要表现。本症又称弥漫性躯体血管角质瘤（angiokeratoma corporis diffusum）。1898年德国Fabry和英国Anderson分别报道，故又称Anderson．Fabry病。对Fabry病的认识百余年来经历了由临床、病理，进而到相关的酶、基因的了解，特别是近年已有基因重组产品用于治疗”，充分展现了人们对遗传性疾病研究的历程。Fabry病如及时诊断有酶替代治疗的可能，可极大改善预后，但因本症为多系统受累疾病，临床表现多样，极易漏诊误诊。现将Fabry病的诊治进展叙述如下。展开更多
文摘遗传性角质瘤,全名为瀰漫性体部血管角质瘤（angiokeratoma corporis diffu-sum umuersale）又名Fabry氏病。Fabry及Anderson二氏于1898年首先报导,嗣后人们不再认为该病为皮肤病,而是一种全身性疾病。近年来研究证明为X连锁隐性遗传病。本文报告一例男孩,并就发病机制、生化过程、临床特点予以讨论。
文摘Objective: To determine the significance of the dermatologic and systemic abnormalities found in 11 patients with Fabry disease (FD) which is an X-linked lysosomal storage disorder caused by the partial or complete deficiency of the α-galactosidase A enzyme. This defect leads to the accumulation of uncleaved glycosphingolipids throughout vascular endothelium and visceral tissues. Design: Case series. Setting: Pediatric Dermatology Division, Ramos Mejia Hospital (primary care center) and Laboratory of Neurochemistry (referral center for metabolic diseases). Patients: Eleven patients with FDwere studied: 6 hemizygous men (mean age, 23.0 years) and 5 heterozygous women (mean age, 49.4 years). Results: Mucocutaneous angiokeratomas (AKs) were found in 5 (83%) of 6hemizygotes and 4 (80%) of 5 heterozygotes. The AKs appeared at an average age of 13 years, affecting predominantly genitalia, back, elbows, and other frequently traumatized areas. All the hemizygotes and none of the heterozygotes suffered from hypohidrosis. Angiokeratomas on the trunk and oral mucosa without sweat abnormalities were detected in 80%of heterozygous women. All hemizygotic men presented with acral pain in childhood. Conclusion: We emphasizethe valueof early recognition of AKs and hypohidrosis as diagnostic clues to FD, a severe and progressive disorder.
文摘Background: Classic Fabry disease, an X-linked recessive lysosomal storage disease due to the deficient activity of α -galactosidase A, typically presents in early childhood with acroparesthesias, angiokeratomas, hypohidrosis, and corneal dystrophy. The neuropathic pain presumably results from glycosphingolipid accumulation in the vascular endothelium and in small-caliber nerve fibers, and is treatable by enzyme replacement therapy. Later-onset variants with residual α -galactosidase A activity lack vascular endothelial involvement and classic symptoms, which lead to the development of cardiac and/or renal disease after the fourth decade of life. Objective: To expand the later-onset Fabry phenotype to include cramp-fasciculation syndrome without small-fiber neuropathy. Methods: A 34- year-old man who presented with chronic exercise-induced pain, fasciculations, and cramps of the feet and legs, and his similarly affected mother, were evaluated. Clinical, biochemical, and molecular studies were performed. Results: Clinical evaluation suggested the diagnosis of Fabry disease, which was confirmed by reduced plasma and leukocyte α -galactosidase A activities (8.8% and 13.4% of normal, respectively) due to a missense A143T mutation. His mother was heterozygous for the A143T mutation. Conclusion: The presentation of cramps and fasciculations without apparent small-fiber neuropathy expands the phenotype of later-onset Fabry disease.
文摘Fabry病是由于溶酶体中水解酶α-半乳糖苷酶A（α-galactosidaseA）缺乏，导致糖（神经）鞘脂[glycosphingolipid，主要成分为神经醯胺己三糖苷globotriaosylceramide（Gb3）]蓄积而导致多系统受累的疾病。临床以特征的皮肤改变（血管角质瘤）、感觉异常、肾功能衰竭等为主要表现。本症又称弥漫性躯体血管角质瘤（angiokeratoma corporis diffusum）。1898年德国Fabry和英国Anderson分别报道，故又称Anderson．Fabry病。对Fabry病的认识百余年来经历了由临床、病理，进而到相关的酶、基因的了解，特别是近年已有基因重组产品用于治疗”，充分展现了人们对遗传性疾病研究的历程。Fabry病如及时诊断有酶替代治疗的可能，可极大改善预后，但因本症为多系统受累疾病，临床表现多样，极易漏诊误诊。现将Fabry病的诊治进展叙述如下。
