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  • Clinical observation of a patient with autosomal-recessive polycystic kidney disease

    Редакция | 2013, PM Pediatrics. Clinical observations, Practical medicine 06 (13) Pediatrics | 25 ноября, 2013

    T.P. MAKAROVA, N.V. AKHMEDGARAEVA, A.V. ISHBULDINA, YU.S. MELNIKOVA, D.A. VDOVIN
    Kazan State Medical University
    Children’s Republican Clinical Hospital

    Makarova Tamara Petrovna
    Doctor of Medical Science, Professor of the Department of Hospital Pediatrics
    49 Butlerova Str., Kazan 420012
    tel. (843) 237-30-37, e-mail: makarova-kgmu@mail.ru 

    The clinical case of a patient with polycystic kidney disease with autosomal-recessive mode of inheritance is described. Characteristic and development of clinical and laboratory-instrumental presentation of disease for this patient with an outcome in chronic kidney disease is given. Methods of treatment of patient are described.

    Key words: polycystic kidney disease, autosomal-recessive mode of inheritance, chronic kidney disease.

     

    REFERENCES

    1. Papajan A.V., Savenkova N.D. Klinicheskaja nefrologija detskogo vozrasta. — Sankt-Peterburg: Levsha. Sankt-Peterburg, 2008. — S. 121-144.

    2. Zerres K. Autosomal recessive polycystic kidney disease in 115 children: clinical presentation, course and influence of gender / K. Zerres, S. Rudnik-Schoneborn, F. Deget // ActaPaediatr. — 1996. — Vol. 85, N 4. — P. 437-445.

    3. Watson M.L., Torres V.E. Polycystic Kidney Disease. — Oxford University Press Inc, New York: 1996.

    4. Guay-Woodford L.M., Meucher G., Hopkins S.D. et al. The severe perinatal form of autosomal recessive polycystic kidneydisease (ARPKD) maps to chromosome 6p21.1-p12: implications for genetic consealing // Am J Hum Genet. — 1995. — Vol. 56. — R. 1101-1107.

    5. Alvarez V., Malaga S., Navarro M. et al. Analysis ofchromosome 6p in Spanish families with recessive polycystic kidney disease // Pediatric Nephrol. — 2000. — Vol. 14. — R. 205-207.

    6. Andreeva Je.F., Larionova V.I., Savenkova N.D. // Nefrologija. — 2004. — T. 8, № 2. — S. 7-13.

     

     

    Метки: A.V. ISHBULDINA, Autosomal-recessive mode of inheritance, Chronic kidney disease, D.A. Vdovin, N.V. Akhmedgaraeva, Polycystic kidney disease, Practical medicine 06 (13) Pediatrics, T.P. MAKAROVA, YU.S. Melnikova

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