The Multifaceted Complexity of Genetic Diseases: A Lesson from Pseudoxanthoma Elasticum
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منابع مشابه
Two cases of pseudoxanthoma elasticum with renal involvement
Abstract Pseudoxanthoma elasticum is a rare, hereditary, multisystemic disease affecting the skin, eye, and cardiovascular system. Renal involvement is uncommon. We describe two cases of pseudoxanthoma elasticum (PXE) in two women with distinctive skin lesions and nephrocalcinosis that renal ultrasonography showed a characteristic pattern of dotted increased echogenicity in the cort...
متن کاملPseudoxanthoma Elasticum: A Report of Three Cases in a Family
Pseudoxanthoma Elasticum is an inherited disorder characterized by generalized fragmentation and progressive calcification of the elastic tissues in the dermis, blood vessels and Bruch’s membrane of the eye. Herein, we report 3 patients in a family with pseudoxanthoma elasticum: a father and his two sons.
متن کاملABCC6 and Pseudoxanthoma Elasticum: The Face of a Rare Disease from Genetics to Advocacy
Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder characterized by the mineralization of connective tissues in the body. Primary manifestation of PXE occurs in the tissues of the skin, eyes, and cardiovascular system. PXE is primarily caused by mutations in the ABCC6 gene. The ABCC6 gene encodes the trans-membrane protein ABCC6, which is highly expressed in the kidneys and liver...
متن کاملA Case of Pseudoxanthoma Elasticum with Microvascular Alterations: Possible Explanations and Causes
Pseudoxanthoma elasticum is a rare autosomal recessive disease, which is well-known for its affection of three major organ systems: skin, eye and cardiovascular systems, in particular large elastic arteries. This case is one of the first demonstrations of microvascular alterations in patients Pseudoxanthoma elasticum and offers hypotheses for their explanation.
متن کاملNew insights into the pathogenesis of pseudoxanthoma elasticum and related soft tissue calcification disorders by identifying genetic interactions and modifiers
Screening of the adenosine triphosphate binding cassette transporter protein subfamily C member 6 gene (ABCC6) in pseudoxanthoma elasticum (PXE) revealed a mutation detection rate of approximately 87%. Although 25% of the unidentified disease alleles underlie deletions/insertions, there remain several PXE patients with no clear genotype. The recent identification of PXE-related diseases and the...
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تاریخ انتشار 2017