X-linked recessive nephrolithiasis with renal failure
Article Abstract:
There are many causes of hereditary nephrolithiasis (kidney stones). One type of hereditary kidney disease was found in a large extended family descended from Irish immigrants, and the pattern of inheritance and the symptoms of the disease are described. Of 162 family members, 9 males suffered from X-linked recessive nephrolithiasis and abnormal renal (kidney) function. X-linked recessive diseases are passed on by females, and inherited only by males. As expected, half of the sons born to mothers who carried the gene developed the disease. The progression of the disease in the patients is described, and a pedigree analysis of six generations is analyzed. The abnormalities found in these family members are different from those of other forms of X-linked recessive nephrolithiasis. These differences include the mode of inheritance, the lack of cysts, absence of deafness and bone disease, and the presence of kidney stone formation. The cause of stone formation in these patients is unknown, and laboratory tests of hormone levels, and calcium and uric acid excretion did not identify those at risk. This is a distinctive form of inherited kidney disease, and better definition of the biochemical and genetic abnormalities will depend on isolation of the abnormal gene on the X chromosome. (Consumer Summary produced by Reliance Medical Information, Inc.)
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 1991
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Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta
Article Abstract:
A study investigated whether cartilage-associated protein (CRTAP) deficiency is associated with recessive osteogenesis imperfecta. Results showed that three of ten children with lethal or severe osteogenesis imperfecta, who did not have a primary collagen defect yet had excess post-translational modification of collagen, had a recessive condition resulting in CRTAP deficiency, suggesting that prolyl 3-hydroxylation of type I collagen is important for bone formation.
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 2006
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Normotensive ischemic acute renal failure
Article Abstract:
The article discusses about the causes and problems related to acute renal failure.
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 2007
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