Polycystic Kidney Disease (Autosomal Recessive)

We have not yet developed a Diagnosis Module for this condition but offer here a brief Overview and Resources to guide and help you. Please use the Feedback button above to let us know if we should prioritize this diagnosis for full module development.

Overview

Autosomal recessive polycystic kidney disease (ARPKD) typically affects children and features enlarged kidneys with microcysts that affect mainly the collecting ducts. ARPKD typically presents in infancy but the course is variable and may not be detected until adulthood. It may be detected by renal ultrasound and diagnosed by clinical criteria or biopsy. [Zerres: 1996]. A family history of polycystic kidney disease in the parents or grandparents is unlikely to be ARPKD and is more likely to represent autosomal dominant polycystic kidney disease.

Neonates affected in utero may develop oligohydramnios and subsequent pulmonary hypoplasia. Approximately 25-30% of neonates with ARPKD will have pulmonary hypoplasia and respiratory distress at birth. [Roy: 1997] If children are able to survive the first month of life, the time of greatest mortality due to respiratory failure, the prognosis is much improved. [Guay-Woodford: 2003]

Hypertension is common and often presents shortly after birth. [Kaplan: 1989] Children generally have polyuria and polydipsia reflecting a defect in the kidneys ability to concentrate urine; oliguria in ARPKD can be associated with acute or chronic renal failure. [Cole: 1987] Children diagnosed at a younger age tend to have more severe renal involvement and less liver involvement. Older children tend to have mild renal involvement and more severe liver involvement.[Avner: 2003], [Desmet: 1992] Complications of liver disease includes portal hypertension from hepatic fibrosis, gatroesophageal varices, hypersplenism, and ascending bacterial cholangitis. [Guay-Woodford: 2003] Children with ARPKD often have difficulty feeding due to mechanical compression of the GI tract either by enlarged kidneys or by hepatosplenomegaly. [Guay-Woodford: 2003]

Treatment of neonates with ARPKD focuses on evaluation and stabilization of respiratory function. Following stabilization, patients are monitored closely for renal and hepatic disease and treated as complications arise. Heart failure in infants may be prevented by treating hypertenion. Periodic endoscopy is necessary to diagnose and treat esophageal varices in individuals with portal hypertension. [Shneider: 2005] If renal function is stable, the patient may be evaluated less frequently than monthly, but should at a minimum be evaluated yearly. Patients with significant renal impairment should be evaluated for anemia and osteodystrophy and treated as necessary. Renal toxic drugs such as NSAIDs and aminogylcosides should be avoided. [ARPKD from Gene Reviews]

Prenatal genetic testing of an a fetus with increased risk of developing ARPKD is possible with amniocentesis or chorionic villus sampling if a disease causing allele has been identified in an affected sibling. [Zerres: 1998] Likewise, carrier testing of siblings can be performed once a disease causing allele is found.

Resources

Authors

Page Bibliography

Avner ED, Harmon W, Niaudet P ed.
Pediatric Nephrology.
4th ed. Philadelphia: Lippincott Williams & Wilkins; 2003. 0781735459 http://books.google.com/books?id=H4Wiberf-BgC

Cole BR, Conley SB, Stapleton FB.
Polycystic kidney disease in the first year of life.
J Pediatr. 1987;111(5):693-9. PubMed abstract

Desmet VJ.
Congenital diseases of intrahepatic bile ducts: variations on the theme "ductal plate malformation".
Hepatology. 1992;16(4):1069-83. PubMed abstract

Guay-Woodford LM, Desmond RA.
Autosomal recessive polycystic kidney disease: the clinical experience in North America.
Pediatrics. 2003;111(5 Pt 1):1072-80. PubMed abstract / Full Text

Kaplan BS, Fay J, Shah V, Dillon MJ, Barratt TM.
Autosomal recessive polycystic kidney disease.
Pediatr Nephrol. 1989;3(1):43-9. PubMed abstract

Roy S, Dillon MJ, Trompeter RS, Barratt TM.
Autosomal recessive polycystic kidney disease: long-term outcome of neonatal survivors.
Pediatr Nephrol. 1997;11(3):302-6. PubMed abstract

Shneider BL, Magid MS.
Liver disease in autosomal recessive polycystic kidney disease.
Pediatr Transplant. 2005;9(5):634-9. PubMed abstract

Zerres K, Mucher G, Becker J, Steinkamm C, Rudnik-Schoneborn S, Heikkila P, Rapola J, Salonen R, Germino GG, Onuchic L, Somlo S, Avner ED, Harman LA, Stockwin JM, Guay-Woodford LM.
Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology.
Am J Med Genet. 1998;76(2):137-44. PubMed abstract

Zerres K, Rudnik-Schöneborn S, Deget F, Holtkamp U, Brodehl J, Geisert J, Schärer K.
Autosomal recessive polycystic kidney disease in 115 children: clinical presentation, course and influence of gender. Arbeitsgemeinschaft für Pädiatrische, Nephrologie.
Acta Paediatr. 1996;85(4):437-45. PubMed abstract