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PKHD1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

PKHD1 gene

The PKHD1 gene provides instructions for creating the protein fibrocystin, which is essential for the proper structure and function of kidney cells.

Overview

The PKHD1 gene provides instructions for making a protein called fibrocystin (sometimes known as polyductin). This protein is present in fetal and adult kidney cells, and is also present at low levels in the liver and pancreas.

Normal Function

Fibrocystin spans the cell membrane of kidney cells, with one end inside the cell and the other projecting from the outer surface. Based on its structure, fibrocystin may act as a receptor, receiving signals that help the cell respond to its environment. This protein may also be involved in:

  • Connecting cells together (adhesion)
  • Keeping cells apart (repulsion)
  • Promoting the growth and division of cells (proliferation)

Fibrocystin is also found in primary cilia—tiny, fingerlike projections that line the small tubes where urine is formed (renal tubules). Researchers believe these cilia play an important role in maintaining the size and structure of these tubules, though the specific function of fibrocystin in this process remains unclear.

Health Conditions Related to Genetic Changes

Polycystic kidney disease

More than 270 mutations in the PKHD1 gene have been identified in people with polycystic kidney disease. These mutations cause autosomal recessive polycystic kidney disease (ARPKD), a severe type of the disorder usually evident at birth or in early infancy.

  • Mutation types: Mutations include changes in single DNA building blocks (base pairs) and insertions or deletions of a small number of base pairs.
  • Protein impact: These mutations disrupt the normal structure and function of the fibrocystin protein or lead to the production of an abnormally small, nonfunctional version of the protein.
  • Disease mechanism: Researchers have not yet determined exactly how these genetic changes lead to the formation of the numerous cysts characteristic of this disease.

Other Names for This Gene

  • FCYT
  • fibrocystin
  • PKHD1_HUMAN
  • polycystic kidney and hepatic disease 1 (autosomal recessive)
  • polyductin
  • TIGM1
  • tigmin

Frequently Asked Questions

The liver may develop bile duct abnormalities leading to portal hypertension, jaundice, or enlarged spleen. Parents should monitor for yellowing of the skin or eyes, easy bruising, or abdominal swelling. Early referral to a pediatric hepatologist can help manage these complications.
Management focuses on supportive care: controlling blood pressure, treating infections promptly, and managing fluid balance. In severe cases, kidney transplantation or combined kidney‑liver transplant may be considered. Early intervention and multidisciplinary care improve quality of life and survival.
Signs include an enlarged abdomen, poor feeding, rapid breathing, or a palpable liver mass. Ultrasound of the kidneys and liver is the first step; if cysts or enlarged kidneys are seen, genetic testing for PKHD1 is indicated.
Many children survive into adolescence, but chronic kidney disease often progresses to end‑stage renal disease by early adulthood. Families should plan for regular nephrology follow‑up, discuss transplant options early, and maintain a supportive environment that encourages healthy habits and adherence to medical care.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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