CHARACTERISTICS OF RENAL END EXTRARENAL MANIFESTATIONS OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE IN CHILDREN

AIM OF STUDY. To estimate the characteristics of renal and extrarenal manifestations of autosomal dominant polycystic kidney disease (ADPKD) in children. PATIENTS AND METHODS. 67 children from 60 families with ADPKD were involved in research. Data of follow-up, clinical, laboratory and instrumental examinations were used. Stratification of chronic kidney disease (CKD) according to NKF-K/DOQI classification (2002) and national recommendations (2012) was carried out. RESULTS. The agespecific features of renal cysts diagnostics by ultrasound were detected: 0-15 years in 91%, including 0-18 month (very early onset) in 19,4%; 15-18 years in 9%. Bilateral location of renal cysts dominate: at first detection (mean age 8,24±0,64 years) in 59,7%, at follow-up moment (mean age 13,2±0,54 years) in 95,5%. Regression analysis revealed that in ADPKD children annual increase of maximal diameter of renal cysts by ultrasound (US) scan was 0,21±0,03 cm, annual increase of average renal length by US scan was 0,42±0,05 cm. Arterial hypertension (AH) was diagnosed at first detection of cysts in 4,5%, at follow-up in 21%. Average renal length and maximal diameter of renal cysts in ADPKD children with AH is significantly larger than in ADPKD children without AH. There are no significant differences between average renal length, maximal diameter of renal cysts and AH frequency in children with very early and later detection of cysts. Extrarenal manifestations of ADPKD in children at followup (5,1±0,6 years) are significantly more often (31,3%), than at first renal cysts detection (13,5%). It was demonstrated that computer tomography and magnetic resonance imaging are significantly more informative methods for detection of extrarenal cysts than US scan. In ADPKD children I stage of CKD dominates in 94%. CONCLUSION. Characteristics of renal and extrarenal manifestations, course and outcome of ADPKD in children were revealed.

1. Wilson PD. Polycystic kidney disease: new understanding in the pathogenesis. Int J Biochem Cell Biol 2004; (36): 1868–1873

2. Bae KT, Zhu F, Chapman A et al. Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease (CRISP). Magnetic resonance imaging evaluation of hepatic cysts in early autosomaldominant polycystic kidney disease. Clin J Am Soc Nephrol 2006; (1): 64–69

3. Torres VE, Harris PC, Pirson Y. Autosomal dominant polycystic kidney disease. Lancet 2007; 369(9569): 1287-301

4. Harris PC, Torres VE. Autosomal dominant polycystic disease in GeneClinics: Clinical Genetic Information Recourse [database online]. Copyright. University of Washington, Seattle. Available at http://www.geneclinics.org. Initial Posting: January 10, 2002. Last Update: December 8, 2011 (дата обращения: 02.03.2012).

5. Selistre L, de Souza V, Ranchin B et al. Early renal abnormalities in children with postnatally diagnosed autosomal dominant polycystic kidney disease. Pediatric Nephrology 2012; 27 (9): 1589-1593

6. Liapis H, Winyard P. Cystic diseases and developmental kidney defects In: Jennette JC, Olson JL, Schwartz MM, Silva FG eds. Heptinstall’s Pathology of the Kidney, 6th ed. LippincottWilliams & Wilkins, Philadelphia, 2007; 1257–1306

7. Rossetti S, Consugar MB, Chapman AB et al., CRISP Consortium. Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. J Am Soc Nephrol 2007; (18): 2143–2160

8. Torra Balcells R, Ars Criach E. Molecular diagnosis of autosomal dominant polycystic kidney disease. Nefrologia 2011; 31(1): 35-43

9. Pei Y, Obaji J, Dupuis A et al. Unified Criteria for Ultrasonographic Diagnosis of ADPKD. J Am Soc Nephrol 2009; (20): 205–212

10. Demetriou K, Tziakouri C, Anninou K et al. Autosomal dominant polycystic kidney disease-type 2. Ultrasound, genetic and clinical correlations Nephrol Dial Transplant 2000; 15(2): 205-211

11. Reed B, McFann K, Kimberling WJ et al. Presence of de novo mutations in autosomal dominant polycystic kidney disease patients without family history. Am J Kidney Dis 2008; 52(6):1042- 1050

12. Бергман К, Зеррес К. Кистозные заболевания почек. В: Лойманн Э, Цыгин АН, Саркисян АА, ред. Детская нефрология. Литера, М., 2010; 200-209

13. Mekahli D, Woolf AS, Bockenhauer D. Similar renal outcomes in children with ADPKD diagnosed by screening or presenting with symptoms. Pediatr Nephrol 2010; 25 (11): 2275-2282

14. Гаврилевич БА, Аведейчук ЮИ. Значение ультразвукового исследования в диагностике заболеваний единственной почки. Вестн рентгенологии и радиологии 1990; (5-6): 129

15. Капустин ВС, Пиманов СИ. Ультразвуковое исследование мочевого пузыря, мочеточников и почек. Белмедкнига, Витебск, 1998; 128

16. National Kidney Foundation KD. Clinical practice guidelines for chronic Kidney disease: Evaluation, classification and stratification. Am J Kidney Dis 2002; 39 [Suppl 1]: S1-S266

17. Hogg RJ, Furth S, Lemley KV et al. National Kidney Foundation’s Kidney Disease Outcomes Quality Initiative clinical practice guidelines for chronic kidney disease in children and adolescents: evaluation, classification, and stratification. Pediatrics 2003; 111(6): 1416-1421

18. Смирнов АВ, Добронравов ВА, Каюков ИГ и др. Рекомендации Научно-исследовательского института нефрологии Санкт-Петербургского государственного медицинского университета им. акад. И.П. Павлова: определение, классификация, диагностика и основные направления профилактики хронической болезни почек у взрослых. Нефрология 2008; 12 (2):75-93

19. Levey AS, de Jong PE, Coresh J et al. The definition, classification, and prognosis of chronic kidney disease: a KDIGO Controversies Conference report. Kidney Int 2011; 80(1): 17-28

20. Смирнов АВ, Шилов ЕМ, Добронравов ВА и др. Хроническая болезнь почек: основные принципы скрининга, диагностики, профилактики и подходы к лечению. Национальные рекомендации. Нефрология 2012; 16(1): 89-115

21. Лакин ГФ. Биометрия: Учебное пособие. Высшая школа, М., 1990; 255-274, 298-306

22. Shamshirsaz A. Reza Bekheirnia M, Kamgar M et al. Autosomal-dominant polycystic kidney disease in infancy and childhood: progression and outcome. Kidney Int 2005; (68): 2218–2224

23. Boyer O, Gagnadoux MF, Guest G et al. Prognosis of autosomal dominant polycystic kidney disease diagnosed in utero or at birth. Pediatr Nephrol 2007; 22(3): 380-388

24. Gabow PA, Kimberling WJ, Strain JD et al. Utility of ultrasonography in the diagnosis of autosomal dominant polycystic kidney disease in children. J Am Soc Nephrol 1997; 8(1):105-110

25. Bergmann C, Zerres K. Polycystic Kidney Disease: ADPKD and ARPKD. In: Geary DF, Schaefer-Mosby F, eds. Comprehensive Pediatric Nephrology, Elsevier, 2008;155-178

26. Fick-Brosnahan GM, Tran ZV, Johnson AM et al. Progression of autosomal-dominant polycystic kidney disease in children. Kidney Int 2001; 59 (5): 1654–1662

27. Andreeva EF, Savenkova ND, Larionova VI. Long-term follow-up of 47 children with polycystic kidney disease (PKD) Abstracts of 14th Congress of IPNA-Hungary, Budapest, 31 August-4 September, 2007. Pediatric Nephrol 2007; 22: 1513

28. Tee JB, Acott PD, McLellan DH, Crocker JF. Phenotypic heterogeneity in pediatric autosomal dominant polycystic kidney disease at first presentation: a single-center, 20-year review. Am J Kidney Dis 2004; 43(2): 296-303

29. Pirson Y. Extrarenal manifestations of autosomal dominant polycystic kidney disease. Adv Chronic Kidney Dis 2010; 17 (2): 173-180

30. Fick GM, Duley IT, Johnson AM et al. The spectrum of autosomal dominant polycystic kidney disease in children. J Am Soc Nephrol 1994; 4(9): 1654-1660

31. Johnson AM, Gabow PA. Identification of patients with autosomal dominant polycystic kidney disease at highest risk for end-stage renal disease. J Am Soc Nephrol 1997; (8): 1560–1567

32. Cadnapaphornchai MA, McFann K, Strain JD, Masoumi A, Schrier RW. Increased left ventricular mass in children with autosomal dominant polycystic kidney disease and borderline hypertension. Kidney Int 2008; (74): 1192–1196

33. Chapman AB, Stepniakowski K , Rahbari-Oskoui F. Hypertension in Autosomal Dominant Polycystic Kidney Disease. Adv Chronic Kidney Dis 2010; 17(2): 153–163

34. Chapman AB, Guay-Woodford LM, Grantham JJ et al. Renal structure in early autosomal-dominant polycystic kidney disease (ADPKD): The Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease (CRISP) cohort. Kidney Int 2003; 64(3):1035-1045

35. Gattone VH, Maser RL, Tian C et al. Developmental expression of urine concentration-associated genes and their altered expression in murine infantile-type polycystic kidney disease. Dev Genet 1999; (24): 309–318

36. Nagao S, Nishii K, Katsuyama M et al. Increased water intake decreases progression of polycystic kidney disease in the PCK rat. J Am Soc Nephrol 2006; (17): 2220–2227