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Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.
Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O; Kidney Disease: Improving Global Outcomes. Eckardt KU, et al. Kidney Int. 2015 Oct;88(4):676-83. doi: 10.1038/ki.2015.28. Epub 2015 Mar 4. Kidney Int. 2015. PMID: 25738250 Free article.
Rare autosomal dominant tubulointerstitial kidney disease is caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1beta (HNF1B), renin (REN), and mucin-1 (MUC1). Multiple names have been proposed for these disorders, including 'Medullary C …
Rare autosomal dominant tubulointerstitial kidney disease is caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear …
From juvenile hyperuricaemia to dysfunctional uromodulin: an ongoing metamorphosis.
Venkat-Raman G, Gast C, Marinaki A, Fairbanks L. Venkat-Raman G, et al. Pediatr Nephrol. 2016 Nov;31(11):2035-42. doi: 10.1007/s00467-015-3308-y. Epub 2016 Feb 12. Pediatr Nephrol. 2016. PMID: 26872483 Review.
It has taken a long time to clarify the pathophysiology and prevalence of this disease entity which has been shown to be genetically identical to medullary cystic kidney disease (MCKD) type II. The initial suspicion that uric acid was the noxious agent has been replaced by …
It has taken a long time to clarify the pathophysiology and prevalence of this disease entity which has been shown to be genetically identic …
Tamm-Horsfall glycoprotein: biology and clinical relevance.
Serafini-Cessi F, Malagolini N, Cavallone D. Serafini-Cessi F, et al. Am J Kidney Dis. 2003 Oct;42(4):658-76. doi: 10.1016/s0272-6386(03)00829-1. Am J Kidney Dis. 2003. PMID: 14520616 Review.
We describe the physical-chemical structure of human THP and its biosynthesis and interaction with other proteins and leukocytes. The clinical relevance of THP reported here includes: (1) involvement in the pathogenesis of cast nephropathy, urolithiasis, and tubulointersti …
We describe the physical-chemical structure of human THP and its biosynthesis and interaction with other proteins and leukocytes. The clinic …
Uromodulin storage diseases: clinical aspects and mechanisms.
Scolari F, Caridi G, Rampoldi L, Tardanico R, Izzi C, Pirulli D, Amoroso A, Casari G, Ghiggeri GM. Scolari F, et al. Am J Kidney Dis. 2004 Dec;44(6):987-99. doi: 10.1053/j.ajkd.2004.08.021. Am J Kidney Dis. 2004. PMID: 15558519 Review.
The recent discovery of mutations in the uromodulin gene ( UMOD ) in patients with medullary cystic kidney disease type 2 (MCKD2), familial juvenile hyperuricemic nephropathy (FJHN), and glomerulocystic kidney disease (GCKD) provides the opportu …
The recent discovery of mutations in the uromodulin gene ( UMOD ) in patients with medullary cystic kidney disease type 2 (MCKD2), …
A novel uromodulin mutation in autosomal dominant tubulointerstitial kidney disease: a pedigree-based study and literature review.
Lin Z, Yang J, Liu H, Cai D, An Z, Yu Y, Chen T. Lin Z, et al. Ren Fail. 2018 Nov;40(1):146-151. doi: 10.1080/0886022X.2018.1450757. Ren Fail. 2018. PMID: 29569962 Free PMC article. Review.
MEDLINE and Chinese Biomedicine Databases were searched with 'uromodulin', 'juvenile gout' and their related terms. Genetic sequencing revealed a de novo mutation within exon 3 (Cys223Gly), which was co-segregating with phenotype in this pedigree. ...
MEDLINE and Chinese Biomedicine Databases were searched with 'uromodulin', 'juvenile gout' and their related terms. Genetic se …
[Primary hyperuricemia due to decreased renal uric acid excretion].
Yamauchi T, Ueda T. Yamauchi T, et al. Nihon Rinsho. 2008 Apr;66(4):679-81. Nihon Rinsho. 2008. PMID: 18409514 Review. Japanese.
Although dietary, genetic, or disease-related excesses in urate production underlie hyperuricemia in some cases, impaired renal excretion of uric acid is the dominant cause of hyperuricemia. This type of hyperuricemia may be primary (idiopathic) and unassociated with an id …
Although dietary, genetic, or disease-related excesses in urate production underlie hyperuricemia in some cases, impaired renal excretion of …