Результаты поиска

Fabry disease: molecular genetics of the inherited nephropathy.

Originally described as a dermatologic curiosity by Fabry in 1898 and independently by Anderson in the same year, Fabry disease is now recog … evere pain in the extremities (acroparesthesias), the appearance of the vascular cutaneous lesions (angiokeratoma), hypohidrosis, and the characteristic corneal dystrophy. With increasing age, the major morbid symptoms of the disease result from the progressive infiltration of glycosphingolipid in the cardiovascular-renal system. Death usually occurs from renal …

Variable clinical features of patients with Fabry disease and outcome of enzyme replacement therapy.

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by a deficiency in the enzyme α-galactosidase A due to mutations in the … h symptoms of 'classic' FD including peripheral neuropathic pain, some form of cardiac involvement, angiokeratomas, corneal verticillata, hypohidrosis, tinnitus, and gastrointestinal symptoms, primarily abdominal pain. The majority of males had clinically evident renal involvement. An annual eGFR reduction of -1.88 mL/min/1.73 m2/yr during the course of ERT was …

The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women.

Fabry disease is a rare X-linked lysosomal storage disorder caused by deficient activity of alpha-galactosidase A (alpha-Gal A) resulting in … 73 m) in 24 of 57 (42%), abnormal MRI in 4 of 54 (7%), and abnormal MRA in 10 of 50 patients (20%). Angiokeratomas and corneal epitheliopathy were documented in 63% and 82% of the 57 patients, respectively. Despite the virtual absence of storage material in plasma and skin vascular endothelial cells, this population of women with Fabry disease exhibited a wide …

Clinical features and enzyme replacement therapy in 10 children with Fabry disease.

OBJECTIVE: To summarize the clinical features, diagnosis and enzyme replacement therapy(ERT) of Fabry disease (FD) in children. METHODS: Th … th acral neuralgia. Five patients had little or no sweating. Five patients presented with cutaneous angiokeratoma. Two patients had abdominal pain. One patient developed joint symptoms. Four patients had corneal opacity. One patient had hearing loss; one patient had short stature. One patient had mild proteinuria and 1 patient had dysplasia of the right kidney …

Fucosidosis: A Review of a Rare Disease.

Fucosidosis is a rare lysosomal storage disease caused by α-L-fucosidase deficiency following a mutation in the FUCA1 gene. This enzyme is r … loss, along with growth retardation, coarse facial features, hepatosplenomegaly, telangiectasis or angiokeratomas, epilepsy, inguinal hernia, and dysostosis multiplex. Patients usually die at an early age. Treatment of fucosidosis is a great challenge, and there is currently no definitive effective treatment. Hematopoietic cell transplantation studies are ongo …

Pleomorphic Appearance of Breast Cancer Cutaneous Metastases.

Cutaneous metastases occur in approximately 10% of oncology patients as a feature of a persistent solid tumor or the harbinger of recurrent … pecia areata, dermatitis, hidradenitis suppurativa, and scleroderma), and vascular lesions (such as angiokeratoma, angiosarcoma, lymphangioma circumscriptum, purpura, and pyogenic granuloma). In addition, breast carcinoma cutaneous metastases can not only mimic other miscellaneous conditions such as erosions and ulcers, Paget's disease, and papillomatosis cutis …

Fabry disease.

Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity. FD is pan-ethnic and the reported annual incidence of 1 in 100,000 may underestimate the true prevalence of the disease. Classically affected hemizygous males, with no residual α-galactosidase A activity may display all the characteristic neurological (pain), cutaneous (angiokeratoma), renal (proteinuria, kidney failure), cardiovascular (cardiomyopathy, arrhythmia), cochleo-vestibular and cerebrovascular (transient ischemic attacks, s…

Impact of growing up with Fabry disease on achievement of psychosocial milestones and quality of life.

Little is known on the impact of growing up with Fabry disease (FD) on psychosocial development. Children with FD may suffer from severe recurrent pains in hands and feet, gastro-intestinal symptoms and heat intolerance. These symptoms may influence quality of life and may interfere with a normal psychosocial development. It is important to evaluate psychosocial outcomes of patients with FD into adulthood to be able to optimize support of children with FD. The current cross-sectional questionnaire study investigated psychosocial development and quality of life of 28 young adults with FD, aged

Dermoscopic Features Summarization and Comparison of Four Types of Cutaneous Vascular Anomalies.

Objective: Dermoscopic features of cutaneous vascular anomalies have been reported, but the described features currently known are limited and not well-understood. The aim of this study is to comprehensively summarize and compare the dermoscopic features of the four different types of cutaneous vascular anomalies [infantile hemangiomas (IH), cherry angioma (CA), angiokeratomas (AK), and pyogenic granuloma (PG)] in the Chinese Han population. Materials and Methods: Dermoscopic features of 31 IH, 172 CA, 31 AK, and 45 PG were collected based on the contact non-polarized mode of dermoscopy at 20-…

Clinical and dermoscopic profile of non-venereal genital dermatoses and its impact on the quality of life: A cross-sectional study of 550 cases.

Background Non-venereal genital dermatoses cover a broad spectrum of conditions with varying aetiologies and can be confused with venereal d … and lichen planus 39 (7.1%). Other dermatoses included psoriasis, Zoon's balanitis, lichen nitidus, angiokeratoma and idiopathic scrotal calcinosis. Physiological conditions were noted in 56 (10.2%) cases, while 5 (1%) cases were premalignant and malignant disorders. The commonest symptom was genital pruritus 337 (60.9%). Scrotum was most frequently affected si …

Real world outcomes of Fabry disease in Italian excellence centers: the ground study.

BACKGROUND: A better understanding of Fabry Disease (FD) in terms of diagnostic journey, patient profile and use of available treatments rem … from diagnosis to start of FD specific treatment. Initial manifestations were chronic pain (18.1%), angiokeratomas (13.1%), acroparesthesia and abdominal pain (12.5%), or left ventricular hypertrophy (LVH) (8.5%). 143 missense/nonsense GLA variants were identified. 82% patients were actively treated with one of the FD specific therapies, 24% had switched ≥ 1 tr …

What should rheumatologists know about Gaucher disease and Fabry disease? Connecting the dots for an overview.

Gaucher and Fabry diseases are lysosomal storage disorders in which deficient enzyme activity leads to pathological accumulation of sphingolipids. These diseases have a broad phenotypic presentation. Musculoskeletal symptoms and pain complaints are frequently reported by patients. Thus, rheumatologists can be contacted by these patients, contributing to the correct diagnosis, earlier indication of appropriate treatment and improvement of their prognosis. This review describes important concepts about Gaucher and Fabry diseases that rheumatologists should understand to improve patients' quality

Совпадение в полном тексте источника
… Fabry disease | GLA | α-Galactosidase A | Globotriaosylceramide | Males: cornea verticillata, acroparesthesia, angiokeratomas, gastrointestinal symptoms, hypohidrosis, progressive organ failure (cardiomyopathy, kidney and cerebrovascular disease). … Fig. 3 Multiple reddish-purple angiokeratomas in the lower abdomen of a patient with Fabry disease. Courtesy of Dr. Nilton Salles Rosa Neto Female patients with FD are most frequently heterozygous for pathogenic variants in the GLA gene. …