先天性无痛无汗症（congenital insensitivity to pain with anhidrosis,CIPA）又称遗传性感觉和自主神经障碍（HSAN）IV型，是一种罕见病^[1-2]。本病属常染色体隐性遗传性疾病，首先由Dearbom（1932年）报道。国外报道了近40例，国内...先天性无痛无汗症（congenital insensitivity to pain with anhidrosis,CIPA）又称遗传性感觉和自主神经障碍（HSAN）IV型，是一种罕见病^[1-2]。本病属常染色体隐性遗传性疾病，首先由Dearbom（1932年）报道。国外报道了近40例，国内报道20余例，临床表现为感觉障碍，包括痛觉和温度觉、无汗、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
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
文摘先天性无痛无汗症（congenital insensitivity to pain with anhidrosis,CIPA）又称遗传性感觉和自主神经障碍（HSAN）IV型，是一种罕见病^[1-2]。本病属常染色体隐性遗传性疾病，首先由Dearbom（1932年）报道。国外报道了近40例，国内报道20余例，临床表现为感觉障碍，包括痛觉和温度觉、无汗、
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.
