Autosomal Dominant Tubulo-Interstitial Kidney Disease Due to MUC1 Mutation. Review and case report
https://doi.org/10.28996/2618-9801-2018-2-225-229
Abstract
Nephropathy associated with a mutation in mucin 1 coding gene, a rare hereditary kidney disease characterized by an autosomal dominant type of inheritance, minor changes in urine analysis, development of tubular atrophy and interstitial fibrosis, a slow progressive decrease in renal function. In 2014 at a KDIGO conference, this disease, together with some others having similar clinical and morphological features, was grouped under the common name of autosomal dominant tubulointerstitial kidney disease. Kidney biopsy is not of great importance for the diagnosis of this disease. The only currently known mutation is a single cytosine insertion into a string of 7 cytosines in the variable-number tandem repeat (VNTR) region of the MUC-1 gene. This mutation cannot be detected either by sequencing by Sanger or by a new generation sequencing and is determined by a specially developed method of genetic analysis. We report a case of a 13-year-old girl with a strong family history of chronic kidney disease who was tested positive for the MUC1 mutation.
About the Authors
M. Yu. Kagan
Orenburg regional clinical children’s hospital
Russian Federation
Russian Federation
N. N. Bervina
Orenburg regional clinical children’s hospital
Russian Federation
Russian Federation
A. E. Osokin
Orenburg regional clinical hospital No. 2
Russian Federation
Russian Federation
E. Yu. Belyashova
Orenburg regional clinical hospital No. 2
Russian Federation
Russian Federation
References
1. Grams M.E., Chow E.K., Segev D.L.et al. Lifetime incidence of CKD stages 3-5 in the United States. Am J Kidney Dis. 2013; 62:245-252.
2. Saran R., Li Y., Robinson B. et al. US Renal Data System 2014 Annual Data Report: epidemiology of kidney disease in the United States. Am J Kidney Dis. 2015; 66(1)(suppl 1):Svii.S1-S305.
3. Bleyer A.J., Kidd K., Zivna M. et al. Autosomal dominant tubulointerstitial kidney disease. Adv Chronic Kidney Dis. 2017; 24(2):86-93.
4. Bleyer A.J., Kmoch S., Antignac C. et al. Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1. Clin J Am Soc Nephrol. 2014; 9(3): 527-535.
5. Eckardt K.U., Alper S.L., Antignac C. et al. Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management-a KDIGO consensus report. Kidney Int. 2015; 88(4):676-683.
6. Devuyst O., Knoers N.V., Remuzzi G. et al. Rare inherited kidney diseases: challenges, opportunities, and perspectives. Lancet. 2014; 383(9931):1844-1859.
7. Ekici A.B., Hackenbeck T., Morinière V. et al. Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin. Kidney Int. 2014; 86:589.
8. Pemberton L.F., Rughtetti A., Taylor-Papadimitriou J.et al. The epithelial mucin MUC1 contains at least two discrete signals specifying membrane localization in cells. J Biol Chem. 1996; 271:2332-2340.
9. Auranen M., Ala-Mello S., Turunen J.A. et al. Further evidence for linkage of autosomal-dominant medullary cystic kidney disease on chromosome 1q21. Kidney Int. 2001; 60:1225.
10. Fuchshuber A., Kroiss S., Karle S. et al. Refinement of the gene locus for autosomal dominant medullary cystic kidney disease type 1 (MCKD1) and construction of a physical and partial transcriptional map of the region. Genomics. 2001; 72(3): 278-284
11. Blumenstiel B., DeFelice M., Birsoy O. et al. Development and validation of a mass spectrometry-based assay for the molecular diagnosis of mucin-1 kidney disease. J Mol Diagn. 2016; 18(4):566-571.
12. Kirby A., Gnirke A., Jaffe D.B. et al. Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. Nat Genet. 2013; 45(3):299-303.
Review
For citations:
Kagan M.Yu., Bervina N.N., Osokin A.E., Belyashova E.Yu. Autosomal Dominant Tubulo-Interstitial Kidney Disease Due to MUC1 Mutation. Review and case report. Nephrology and Dialysis. 2018;20(2):225-229. (In Russ.) https://doi.org/10.28996/2618-9801-2018-2-225-229
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