Uromodulin storage disease

Kidney International

Volumn 73, Issue 8, 2008, Pages 971-976

  Nasr, S H ^a   Lucia, J P ^b   Galgano, S J ^a   Markowitz, G S ^a   D'Agati, V D ^a  

^a New York Presbyterian Columbia University Medical Center   (United States)

^b Indiana Nephrology and Internal Medicine   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALBUMIN; ANTINUCLEAR ANTIBODY; BICARBONATE; CALCIUM; CHOLESTEROL; CREATININE; DNA ANTIBODY; ELECTROLYTE; GLUCOSE; HEPATITIS B SURFACE ANTIGEN; HEPATITIS C ANTIBODY; NEUTROPHIL CYTOPLASMIC ANTIBODY; POTASSIUM; PROTEIN; SODIUM; TAMM HORSFALL GLYCOPROTEIN;

ADULT; ALBUMIN BLOOD LEVEL; ANAMNESIS; ARTICLE; CASE REPORT; CHOLESTEROL BLOOD LEVEL; CLINICAL FEATURE; CREATININE BLOOD LEVEL; CREATININE CLEARANCE; DIAGNOSTIC APPROACH ROUTE; DIAGNOSTIC TEST; FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY; FEMALE; HEMATOCRIT; HUMAN; HUMAN TISSUE; KIDNEY BIOPSY; KIDNEY DISEASE; KIDNEY FAILURE; LABORATORY TEST; LEUKOCYTE COUNT; MEDICAL EXAMINATION; PRIORITY JOURNAL; PROTEIN URINE LEVEL; STORAGE DISEASE; THROMBOCYTE COUNT; URINALYSIS;

EID: 41449111489     PISSN: 00852538     EISSN: 15231755     Source Type: Journal    
DOI: 10.1038/sj.ki.5002679     Document Type: Article

References (29)

1. Hart TC, Gorry MC, Hart PS et al. Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet 2002; 39: 882-892.
2. Rampoldi L, Caridi G, Santon D et al. Allelism of MCKD FJHN and GCKD caused by impairment of uromodulin export dynamics. Hum Mol Genet 2003; 12: 3369-3384.
3. Lens XM, Banet JF, Outeda P, Barrio-Lucía V. A novel pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease. Am J Kidney Dis 2005; 46: 52-57.
4. Bleyer AJ, Hart TC, Willingham MC et al. Clinico-pathologic findings in medullary cystic kidney disease type 2. Pediatr Nephrol 2005; 20: 824-827.
5. Vylet'al P, Kublová M, Kalbácová M et al. Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome. Kidney Int 2006; 70: 1155-1169.
6. Kudo E, Kamatani N, Tezuka O et al. Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families. Kidney Int 2004; 65: 1589-1597.
7. Jennings P, Aydin S, Kotanko P et al. Membrane targeting and secretion of mutant uromodulin in familial juvenile hyperuricemic nephropathy. J Am Soc Nephrol 2007; 18: 264-273.
8. Scolari F, Caridi G, Rampoldi L et al. Uromodulin storage diseases: clinical aspects and mechanisms. Am J Kidney Dis 2004; 44: 987-999.
9. Bleyer AJ, Woodard AS, Shihabi Z et al. Clinical characterization of a family with a mutation in the uromodulin (Tamm-Horsfall glycoprotein) gene. Kidney Int 2003; 64: 36-42.
10. Rezende-Lima W, Parreira KS, García-González M et al. Homozygosity for uromodulin disorders: FJHN and MCKD-type 2. Kidney Int 2004; 66: 558-563.
11. Bleyer AJ, Trachtman H, Sandhu J et al. Renal manifestations of a mutation in the uromodulin (Tamm-Horsfall protein) gene. Am J Kidney Dis 2003; 42: E20-E26.
12. Wolf MT, Mucha BE, Attanasio M et al. Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains. Kidney Int 2003; 64: 1580-1587.
13. Kumar S. Mechanism of injury in uromodulin-associated kidney disease. J Am Soc Nephrol 2007; 18: 10-12.
14. Serafini-Cessi F, Malagolini N, Cavallone D. Tamm-Horsfall glycoprotein: biology and clinical relevance. Am J Kidney Dis 2003; 42: 658-676.
15. Cavallone D, Malagolini N, Serafini-Cessi F. Mechanism of release of urinary Tamm-Horsfall glycoprotein from the kidney GPI-anchored counterpart. Biochem Biophys Res Commun 2001; 280: 110-114.
16. Tinschert S, Ruf N, Bernascone I et al. Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy. Nephrol Dial Transplant 2004; 19: 3150-3154.
17. Bernascone I, Vavassori S, Di Pentima A et al. Defective intracellular trafficking of uromodulin mutant isoforms. Traffic 2006; 7: 1567-1579.
18. Hodanová K, Majewski J, Kublová M et al. Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41. Kidney Int 2005; 68: 1472-1482.
19. Pak J, Pu Y, Zhang ZT et al. Tamm-Horsfall protein binds to type 1 fimbriated Escherichia coli and prevents E. coli from binding to uroplakin Ia and Ib receptors. J Biol Chem 2001; 276: 9924-9930.
20. Mo L, Zhu XH, Huang HY et al. Ablation of the Tamm-Horsfall protein gene increases susceptibility of mice to bladder colonization by type 1-fimbriated Escherichia coli. Am J Physiol Renal Physiol 2004; 286: F795-F802.
21. Mo L, Huang HY, Zhu XH et al. Tamm-Horsfall protein is a critical renal defense factor protecting against calcium oxalate crystal formation. Kidney Int 2004; 66: 1159-1166.
22. Choi SW, Ryu OH, Choi SJ et al. Mutant Tamm-Horsfall glycoprotein accumulation in endoplasmic reticulum induces apoptosis reversed by colchicine and sodium 4-phenylbutyrate. J Am Soc Nephrol 2005; 16: 3006-3014.
23. Dobson CM. Principles of protein folding, misfolding and aggregation. Semin Cell Dev Biol 2004; 15: 3-16.
24. Hoyer JR. Tubulointerstitial immune complex nephritis in rats immunized with Tamm-Horsfall protein. Kidney Int 1980; 17: 284-292.
25. Mayrer AR, Kashgarian M, Ruddle NH et al. Tubulointerstitial nephritis and immunologic responses to Tamm-Horsfall protein in rabbits challenged with homologous urine or Tamm-Horsfall protein. J Immunol 1982; 128: 2634-2642.
26. Steele TH, Oppenheimer S. Factors affecting urate excretion following diuretic administration in man. Am J Med 1969; 47: 564-574.
27. Messiaen T, Deret S, Mougenot B et al. Adult Fanconi syndrome secondary to light chain gammopathy. Clinicopathologic heterogeneity and unusual features in 11 patients. Medicine (Baltimore) 2000; 79: 135-154.
28. D'Agrosa MC, Deteix P, Fonck Y et al. The kidney in Refsum's disease. Clinical, histologic and ultrastructural study of a case. Nephrologie 1988; 9: 269-272.
29. Pabico RC, Gruebel BJ, McKenna BA et al. Renal involvement in Refsum's disease. Am J Med 1981; 70: 1136-1143.