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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
2010-5-26
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pubmed:abstractText |
2,8-dihydroxyadeninuria (DHA) disease (also called 2,8 dihydroxyadeninuria) is a rare autosomal recessive disorder caused by complete adenine phosphoribosyltransferase deficiency and typically manifests as recurrent nephrolithiasis. Only rare cases of DHA nephrolithiasis have been reported from the USA. Herein, we report three American patients who developed DHA crystalline nephropathy leading to end-stage renal disease (ESRD) with recurrence in the allograft.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
1460-2385
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
25
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1909-15
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pubmed:dateRevised |
2010-9-28
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pubmed:meshHeading |
pubmed-meshheading:20064951-Adenine,
pubmed-meshheading:20064951-Adenine Phosphoribosyltransferase,
pubmed-meshheading:20064951-Adult,
pubmed-meshheading:20064951-Allopurinol,
pubmed-meshheading:20064951-Crystallization,
pubmed-meshheading:20064951-Diagnosis, Differential,
pubmed-meshheading:20064951-Female,
pubmed-meshheading:20064951-Genes, Recessive,
pubmed-meshheading:20064951-Humans,
pubmed-meshheading:20064951-Hyperoxaluria, Primary,
pubmed-meshheading:20064951-Kidney,
pubmed-meshheading:20064951-Kidney Diseases,
pubmed-meshheading:20064951-Kidney Failure, Chronic,
pubmed-meshheading:20064951-Kidney Transplantation,
pubmed-meshheading:20064951-Male,
pubmed-meshheading:20064951-Middle Aged,
pubmed-meshheading:20064951-Recurrence,
pubmed-meshheading:20064951-United States,
pubmed-meshheading:20064951-Urinary Calculi
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pubmed:year |
2010
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pubmed:articleTitle |
Crystalline nephropathy due to 2,8-dihydroxyadeninuria: an under-recognized cause of irreversible renal failure.
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pubmed:affiliation |
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA. nasr.samih@mayo.edu
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pubmed:publicationType |
Journal Article,
Case Reports
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