Abstract:
:Hereditary renal hypouricemia (HRH) is an inborn error of renal membrane transport specific for uric acid, resulting in increased renal urate clearance associated with hypouricemia. Apparently in most HRH patients, the disorder is caused by loss of function mutations in the gene SLC22A12 coding for human urate transporter 1 (hURAT1), shown to control urate reabsorption in the proximal tubules. The small group of HRH patients with normal SLC22A12 may be affected with mutations in other not yet identified urate transporters. Patients affected with SLC22A12 mutations exhibit attenuated response of urinary urate excretion to pyrazinamide (PZA) and to probenecid (PBD) loading, attributed previously to reflect defective tubular presecretory urate reabsorption. HRH is inherited in an autosomal recessive mode. Most HRH patients are asymptomatic, but some may form renal tract stones and or be predisposed to exercise-induced acute renal failure.
journal_name
Mol Genet Metabjournal_title
Molecular genetics and metabolismauthors
Sperling Odoi
10.1016/j.ymgme.2006.03.015subject
Has Abstractpub_date
2006-09-01 00:00:00pages
14-8issue
1-2eissn
1096-7192issn
1096-7206pii
S1096-7192(06)00117-Xjournal_volume
89pub_type
杂志文章,评审abstract::Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by pigment dilution, nystagmus, decreased visual acuity, a bleeding diathesis, and lysosomal accumulation of ceroid lipofuscin. Electron microscopic evidence demonstrating lack of platelet-dense bodies provides the sine qua non for diagno...
journal_title:Molecular genetics and metabolism
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pub_type: 杂志文章
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
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更新日期:2011-05-01 00:00:00
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pub_type: 杂志文章
doi:10.1016/j.ymgme.2003.10.006
更新日期:2004-02-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 临床试验,杂志文章
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pub_type: 杂志文章
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pub_type: 杂志文章,评审
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更新日期:2012-11-01 00:00:00
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pub_type: 杂志文章
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更新日期:2003-04-01 00:00:00
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pub_type: 杂志文章
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更新日期:2005-01-01 00:00:00
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pub_type: 杂志文章
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pub_type: 杂志文章
doi:10.1016/j.ymgme.2007.10.134
更新日期:2008-04-01 00:00:00
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pub_type: 杂志文章
doi:10.1006/mgme.2001.3222
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pub_type: 杂志文章
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pub_type: 杂志文章
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