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Autosomal recessive polycystic kidney disease: outcomes from a single-center experience

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Abstract.

Autosomal recessive polycystic kidney disease (ARPKD) is a relatively common form of pediatric polycystic kidney disease with an incidence of 1:20,000 live births. Previous reports, primarily from populations of European origin, indicate that the clinical presentation and disease course are quite variable. Using a retrospective study design, we sought to determine whether the clinical course and outcome of our multi-ethnic patient cohort differs from the published literature. A 10-year (1990–2000) retrospective study was conducted in which we reviewed the clinical, histopathological, and imaging records of our 31 ARPKD patients. Patients were diagnosed between 0 and 14 years of age, with 17 (55%) presenting within the 1st month of life. The mean follow-up was 67 months and age at last follow-up ranged from 0.5 to 16 years. Of the 17 patients diagnosed as neonates, 11 (65%) had respiratory insufficiency complicated by pneumothoraces. Two died shortly after birth and 2 died within the 1st year of life due to respiratory failure. Among the 13 neonatal survivors, 7 (54%) developed progressive renal insufficiency, whereas 6 of 14 (43%) of those children who presented beyond 1 month of age developed renal insufficiency. Hypertension was present in 55% of our patients, with nearly all neonatal survivors requiring antihypertensive management. Evidence of portal hypertension was found in 10 (37%) of the 27 patients who survived the 1st year of life. In our multi-ethnic ARPKD cohort, the 1-year survival rate (87%) and the clinical variability are comparable to those previously reported. With the recent identification of the PKHD1 gene, characterization of disease-causing mutations should provide new insights into the molecular basis for this phenotypic variability.

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References

  1. Zerres K, Muecher G, Becker J, Steinkamm C, Rudnik-Schoneborn S, Heikkila P, Rapola J, Salonen R, Germino G, Onuchic L, Somlo S, Avner E, Harman L, Stockwin J, Guay-Woodford L (1998) Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology. Am J Med Genet 76:137–144

    Article  CAS  PubMed  Google Scholar 

  2. Blyth H, Ockenden BG (1971) Polycystic disease of kidney and liver presenting in childhood. J Med Genet 8:257–284

    CAS  PubMed  Google Scholar 

  3. Kaplan BS, Kaplan P, Chadarevian J-P de, Jequier S, O'Regan S, Russo P (1988) Variable expression of autosomal recessive polycystic kidney disease and congenital hepatic fibrosis within a family. Am J Med Genet 29:639–647

    CAS  PubMed  Google Scholar 

  4. Chilton SJ, Cremin BJ (1981) The spectrum of polycystic disease in children. Pediatr Radiol 11:9–15

    CAS  PubMed  Google Scholar 

  5. Gang DL, Herrin JT (1986) Infantile polycystic disease of the liver and kidneys. Clin Nephrol 25:28–36

    CAS  PubMed  Google Scholar 

  6. Deget F, Rudnik-Schoneborn S, Zerres K (1995) Course of autosomal recessive polycystic kidney disease (ARPKD) in siblings: a clinical comparison of 20 sibships. Clin Genet 47:248–253

    CAS  PubMed  Google Scholar 

  7. Zerres K, Volpel MC, Weiss H (1984) Cystic kidneys: genetics, pathologic anatomy, clinical picture, and prenatal diagnosis. Hum Genet 68:l04-l35

    Google Scholar 

  8. Zerres K, Muecher G, Bachner L, Deschennes G, Eggermann T, Kaariainen H, Knapp M, Lenner T, Misselwitz J, Muhlendahl K, Neumann N, Pirson Y, Rudnik-Schoneborn S, Steinbicker V, Wirth B, Scharer K (1994) Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen. Nat Genet 7:429–432

    CAS  PubMed  Google Scholar 

  9. Guay-Woodford LM, Muecher G, Hopkins SD, Avner ED, Germino GG, Guillot AP, Herrin J, Holleman R, Irons DA, Primack W, et al. (1995) The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: implications for genetic counseling. Am J Hum Genet 56:1101–1107

    CAS  PubMed  Google Scholar 

  10. Ward C, Hogan M, Rossetti S, Walker D, Sneddon T, Wang X, Kubly V, Cunningham J, Bacallao R, Ishibashi M, Milliner D, Torres V, Harris P (2002) The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat Genet 30:259–269

    Article  PubMed  Google Scholar 

  11. Onuchic L, Furu L, Nagasawa Y, Hou X, Eggermann T, Ren Z, Bergmann C, Senderek J, Esquivel E, Zeltner R, Rudnik-Schöneborn S, Mrug M, Sweeney W, Avner E, Zerres K, Guay-Woodford L, Somlo S, Germino G (2002) PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple IPT domains and PbH1 repeats. Am J Hum Genet 70:1305–1317

    Article  CAS  PubMed  Google Scholar 

  12. Lieberman E, Salinas-Madrigal L, Gwinn J, Brennan L, Fine R, Landing B (1971) Infantile polycystic disease of the kidneys and liver: clinical, pathological and radiological correlations and comparison with congenital hepatic fibrosis. Medicine (Baltimore) 50:277–318

    Google Scholar 

  13. Kaariainen H, Jaaskelainen J, Kivisaari L, Koskimies O, Norio R (1988) Dominant and recessive polycystic kidney disease in children: classification by intravenous pyelography, ultrasound, and computed tomography. Pediatr Radiol 18:45–50

    CAS  PubMed  Google Scholar 

  14. Cole BR, Conley SB, Stapleton FB (1987) Polycystic kidney disease in the first year of life. J Pediatr 111:693–699

    CAS  PubMed  Google Scholar 

  15. Gagnadoux M-F, Habib R, Levy M, Brunelle F, Broyer M (1989) Cystic renal diseases in children. Adv Nephrol 18:33–58

    CAS  Google Scholar 

  16. Kaplan B, Fay J, Shah V (1989) Autosomal recessive polycystic kidney disease. Pediatr Nephrol 3:43–49

    CAS  PubMed  Google Scholar 

  17. Zerres K, Rudnik-Schoneborn S, Deget F, Holtkamp U, Brodehl J, Geisert J, Scharer K, Nephrologie AfP (1996) Autosomal recessive polycystic kidney disease in 115 children: clinical presentation, course and influence of gender. Acta Paediatr 85:437–445

    CAS  PubMed  Google Scholar 

  18. Roy S, Dillon M, Trompeter R, Barratt T (1997) Autosomal recessive polycystic kidney disease: long-term outcome of neonatal survivors. Pediatr Nephrol 11:302–306

    Article  CAS  PubMed  Google Scholar 

  19. National High Blood Pressure Education Program WGR (1996) Update on the 1987 Task Force Report on High Blood Pressure in Children and Adolescents. Pediatrics 98:649–658

    PubMed  Google Scholar 

  20. Schwartz G, Haycock G, Edelmann C, Spitzer A (1976) A simple estimate of glomerular filtration rate in children derived from body length and plasma creatinine. Pediatrics 58:259–263

    CAS  PubMed  Google Scholar 

  21. Schwartz G, Feld L, Langford D (1984) A simple estimate of glomerular filtration rate in full-term infants during the first year of life. J Pediatr 104:849–854

    CAS  PubMed  Google Scholar 

  22. Kaariainen H (1987) Polycystic kidney disease in children: a genetic and epidemiological study of 82 Finnish patients. J Med Genet 24:474–481

    CAS  PubMed  Google Scholar 

  23. Lonergan G, Rice R, Suarez E (2000) Autosomal recessive polycystic kidney disease: radiologic-pathologic correlation. Radiographics 20:837–855

    CAS  PubMed  Google Scholar 

  24. Jamil B, McMahon L, Savige J, Wang Y, Walker R (1999) A study of long-term morbidity associated with autosomal recessive polycystic kidney disease. Nephrol Dial Transplant 14:205–209

    Article  CAS  PubMed  Google Scholar 

  25. Mattoo TK, Khatani Y, Ashraf B (1994) Autosomal recessive polycystic kidney disease in 15 Arab children. Pediatr Nephrol 8:85–87

    CAS  PubMed  Google Scholar 

  26. Chapman A, Gabow P (1997) Hypertension in autosomal dominant polycystic kidney disease. Kidney Int [Suppl] 61:S71-S73

    Google Scholar 

  27. Tsimaratos M, Cloarec S, Roquelaure B, Retornaz K, Picon G, Chabrol B, Guys J-M, Sarles J, Nivet H (2000) Chronic renal failure and portal hypertension-is portosystemic shunt indicated? Pediatr Nephrol 14:856–858

    Article  CAS  PubMed  Google Scholar 

  28. Blickman J, Bramson R, Herrin J (1995) Autosomal recessive polycystic kidney disease: long-term sonographic findings in patients surviving the neonatal period. Am J Radiol 164:1247–1250

    CAS  Google Scholar 

  29. Fick-Brosnahan G, Belz M, McFann K, Johnson A, Schrier R (2002) Relationship between renal volume growth and renal function in autosomal dominant polycystic kidney disease: a longitudinal study. Am J Kidney Dis 39:1127–1134

    Article  PubMed  Google Scholar 

  30. Kogutt M, Robichaux W, Boineau F, Drake G, Simonton S (1993) Asymmetric renal size in autosomal recessive polycystic kidney disease: a unique presentation. Am J Radiol 160:835–836

    CAS  Google Scholar 

  31. Lucaya J, Enriquez G, Nieto J, Callis L, Pena P, Dominguez C (1993) Renal calcifications in patients with autosomal recessive polycystic kidney disease: prevalance and cause. Am J Radiol 160:359–362

    CAS  Google Scholar 

  32. Currarino G, Stannard M, Rutledge J (1989) The sonolucent cortical rim in infantile polycystic kidneys. J Ultrasound Med 8:571–574

    CAS  PubMed  Google Scholar 

  33. Melson G, Shackelford G, Cole B, McClennan B (1985) The spectrum of sonographic findings in infantile polycystic kidney disease with urographic and clinical correlations. J Clin Ultrasound 13:113–119

    CAS  PubMed  Google Scholar 

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Acknowledgements.

The authors would like to thank the many families and their health care providers who have cooperated with these studies.

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Authors and Affiliations

  1. Division of Nephrology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario M5G1X8, Canada

    Rhona Capisonda, Veronique Phan & J. Williamson Balfe

  2. Department of Diagnostic Imaging, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada

    Jeffrey Traubuci & Alan Daneman

  3. Division of Genetic and Translational Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA

    Lisa M. Guay-Woodford

  4. Division of Genetic and Translational Medicine, Departments of Medicine and Pediatrics, University of Alabama at Birmingham, Kaul 702, 1530 3rd Avenue South 19th Street, Birmingham, AL 35294, USA

    Lisa M. Guay-Woodford

Authors
  1. Rhona Capisonda
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  2. Veronique Phan
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  3. Jeffrey Traubuci
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  4. Alan Daneman
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  5. J. Williamson Balfe
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  6. Lisa M. Guay-Woodford
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Correspondence to Lisa M. Guay-Woodford.

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Capisonda, R., Phan, V., Traubuci, J. et al. Autosomal recessive polycystic kidney disease: outcomes from a single-center experience. Pediatr Nephrol 18, 119–126 (2003). https://doi.org/10.1007/s00467-002-1021-0

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  • DOI: https://doi.org/10.1007/s00467-002-1021-0

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