TürkiyeResearch and clinical trials
17 children with ARPKD in Istanbul: kidneys fail earlier in those with early symptoms
At Marmara University, 17 children diagnosed with ARPKD were studied.
Peer-reviewed publicationARPKD
Kidney diseases
Autosomal recessive polycystic kidney disease (ARPKD)
An inherited disease in which many small cysts form in the kidneys. The liver is also affected. Symptoms usually begin before birth or in infancy.
Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source
This page is translated from the Turkish original.
This disease is followed through the “Kidney diseases” group.
Understanding the disease
This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.
What happens in this disease?
Changes in the PKHD1 gene lead to widening of the kidney's small tubes and to cysts. The kidneys become enlarged and their function may decrease. The liver also has scarring from birth, called fibrosis. The course of the disease varies widely, from mild to severe.
Which symptoms can occur?
Not everyone has the same symptoms.
- Large kidneys; they may be felt at birth
- High blood pressure (common)
- Breathing difficulty in the newborn (in severe cases)
- Kidney function decreasing over time
- Feeding difficulties and poor growth
- An enlarged spleen due to liver involvement
- Urinary tract infections
How is it diagnosed?
The disease is sometimes noticed during pregnancy when ultrasound shows large kidneys. Ultrasound and MRI show the kidneys and liver. A genetic test of the PKHD1 gene confirms the diagnosis.
Treatment and care
Treatment aims to protect the kidneys and liver. Blood pressure is controlled with medicine. Nutritional support and extra fluid and salt may be needed. In kidney failure, dialysis or a kidney transplant is done. Some people need a procedure or a transplant for the liver. Regular follow-up is important. The doctor who follows the disease decides which treatment is suitable.
For the family: inheritance and genetic counselling
It is passed on through recessive inheritance. The mother and father are usually healthy carriers. For a carrier couple, the chance of an affected child in each pregnancy is 1 in 4. In marriages between relatives, the chance of two carriers coming together is higher. Genetic counselling explains the options for future pregnancies.
Source: MedlinePlus Genetics: Polycystic kidney disease · NORD: Autosomal Recessive Polycystic Kidney Disease
Key facts
- How is it inherited?
- Autosomal recessive
- When does it usually start?
- Any age
- Gene(s) involved
- PKHD1, DZIP1L
- Reliable sources
- MedlinePlus (for families) · Orphanet
These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.
You are not alone: patient associations in Türkiye
Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.
We could not find a patient association specific to this disease.
For all rare diseases: Nadir Hastalıklar Federasyonu
Support and help
- In an emergency in Türkiye, call 112.
- For psychological and social support, the ALO 183 Social Support Line (24/7, free from within Türkiye): alo183.aile.gov.tr
- For carers: Looking after yourself as a caregiver
- Preparing for a doctor visit · Collect your questions and symptom notes on one page, then print it and take it with you.
Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.
News about ARPKD
EuropeResearch and clinical trials
International study of 658 patients with ARPKD: a score predicting kidney risk at two months of age developed
In a study led by Germany, with centers from Türkiye also taking part, up to 658 patients with ARPKD were studied.
Peer-reviewed publicationARPKD
Clinical trials (ClinicalTrials.gov)
A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.
This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.
Questions you can ask your doctor
- Could this trial be suitable for us?
- If we take part, how would current treatment and check-ups be affected?
- Where does the trial take place, and how are travel and accommodation handled?
- What happens if we want to leave the trial?
ClinicalTrials.gov lists 1 active interventional study for this disease. 1 is recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.
Selected records (studies with a site in Türkiye first):
- A Study to See if Tolvaptan is Safe in Infants and Children Who at Enrollment Are 28 Days to Less Than 18 Years Old With Autosomal Recessive Polycystic Kidney Disease (ARPKD)
Late stage: the effect is being compared in a large group · Phase 3 · investigational (experimental)RecruitingNCT04782258
See all studies on ClinicalTrials.gov · Joining clinical trials
Kidney diseases: other news
TürkiyeDiagnosis and screening
Genetic testing in 63 adults with suspected inherited kidney disease in Ankara: Alport was the most common diagnosis
At Ankara University, 63 adults with kidney disease of unknown cause underwent genetic testing.
Peer-reviewed publicationAlport
TürkiyeResearch and clinical trials
Eye vessels and retina change in Alport syndrome: a 34-patient study from Ankara
Eye doctors at Başkent University studied the eyes of 34 patients with Alport syndrome.
Peer-reviewed publicationAlport
GlobalResearch and clinical trials
Pregnancy in Bartter and Gitelman syndromes: published cases reviewed
Doctors from Australia reviewed publications on pregnancy in these two kidney diseases.
Peer-reviewed publicationBartter
Medical codes (for talking with your doctor and finding sources)
These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.
Orphanet code: ORPHA:731
No separate ICD-11 code; WHO classifies this disease under: GB8Y
Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.
This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.