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ARPKD — Autosomal Recessive Polycystic Kidney Disease

Rare neonatal-onset polycystic kidney disease caused by PKHD1 mutations.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Dahiliye (İç Hastalıkları) department. Book Appointment →

What is ARPKD — Autosomal Recessive Polycystic Kidney Disease?

Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder caused by autosomal recessive mutations in the PKHD1 gene. Its incidence is approximately 1/20,000. Unlike ADPKD, it is usually diagnosed in the neonatal period, with kidneys appearing large and hyperechogenic even during pregnancy.

The disease has two main components: bilaterally enlarged polycystic kidneys and congenital hepatic fibrosis. In severe neonatal forms, perinatal mortality is high due to pulmonary hypoplasia and Potter sequence. Surviving cases develop resistant hypertension and progressive chronic kidney disease in childhood.

Portal hypertension secondary to congenital hepatic fibrosis manifests with esophageal varices and splenomegaly in childhood. Some patients require combined liver-kidney transplantation. Diagnosis is made by ultrasonography, genetic testing, and family history.

Symptoms

Large palpable kidneys in newborns
Oligohydramnios and Potter sequence (severe forms)
Pulmonary hypoplasia and respiratory failure
Resistant hypertension in childhood
Progressive renal failure
Findings of portal hypertension
Splenomegaly and hypersplenism
Cholangitis episodes (due to hepatic fibrosis)

Risk Factors

Homozygous/compound heterozygous PKHD1 mutations
Autosomal recessive inheritance
Consanguineous marriage
Family history of ARPKD
Affected sibling history
Prenatal oligohydramnios
Large echogenic kidneys on fetal ultrasonography
Congenital hepatic fibrosis history

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Prenatal oligohydramnios and large fetal kidneys
  • Respiratory distress in newborn
  • Resistant hypertension in childhood
  • Liver enlargement and portal hypertension
  • ARPKD in a sibling
  • Recurrent cholangitis episodes

Treatment Methods

01
Respiratory and hemodynamic support in the neonatal period
02
Strict blood pressure control (ACE inhibitor)
03
Close monitoring of renal function
04
Management of portal hypertension
05
Endoscopic interventions for variceal bleeding
06
Dialysis in chronic kidney failure
07
Combined liver-kidney transplantation (selected cases)
08
Genetic counseling and prenatal diagnosis options

Which Department to Visit?

You can visit our Dahiliye (İç Hastalıkları) department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.