Renal involvement in Darier disease
نویسندگان
چکیده
منابع مشابه
Acral Hemorrhagic Darier Disease.
Darier disease is an autosomal-dominant inherited condition caused by mutation of a gene, which produces a protein involved in calcium channel regulation. The disease has a variety of manifestations and lacks consistent genotype-phenotype correlations. Acral hemorrhagic Darier disease causes macules, papules, vesicles and/or hemorrhagic blisters on the extremities. Other classic signs of the di...
متن کاملRenal involvement in Fabry's disease.
Fabry's disease is a sphingolipid storage disorder which is caused by mutations within the gene responsible for the expression of the lysosomal hydrolase, oc-galactosidase A ( 1). The enzyme defect results in the progressive deposition of uncleaved glycosphingolipids within lysosomes of endothelial, perithelial and smooth muscle cells. The major clinical features may be divided into cutaneous l...
متن کاملRenal involvement in Fabry disease.
Every cell in the human body has globotriaosylceramide accumulation (Gb3) in Fabry disease due to the mutation in gene of the enzyme α-galactosidase A. It is a disease linked to sex. The main clinical features are: cutaneous angiokeratomas; acroparestesias and early strokes; decreased sweating and heat intolerance; ocular changes; myocardial hypertrophy, arrhythmias; gastrointestinal disorders ...
متن کاملRenal involvement in Gaucher's disease.
A patient with chronic Gaucher's disease is described who developed glomerulopathy 24 years after splenectomy terminating in renal failure. The pathological changes of this very rare complication of Gaucher's disease are described. The few similar cases reported in the literature are reviewed and the possible pathogenetic pathways discussed.
متن کامل[Renal involvement in Behcet's disease].
BACKGROUND Renal involvement in the Behcet's disease is rare. The clinical features vary from urinary sediment's abnormalities to ESRD. AIM We propose to study the clinical, biological and histological data, the therapeutic management and the prognosis of patients. METHODS We report a retrospective study including 8 patients representing 1.23 % of cases. RESULTS The average age of the pat...
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ژورنال
عنوان ژورنال: Journal of the American Academy of Dermatology
سال: 2016
ISSN: 0190-9622
DOI: 10.1016/j.jaad.2016.03.056