Kidney diseases
An inherited kidney disease present from birth. The kidney cannot keep protein in the blood and lets it leak into the urine. The baby has widespread swelling in the first months.
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.
The kidney's filters clean the blood but keep protein in the body. In this disease, a change in the NPHS1 gene damages a structure in the filter. This is why a lot of protein is lost in the urine. Symptoms begin in the womb or in the first 3 months. Kidney function decreases over time.
Symptoms appear at birth or within the first 3 months.
During pregnancy, the placenta may look large on ultrasound. A protein in the fluid the baby floats in may be high. After birth, a lot of protein is found in the urine and little protein in the blood. A genetic test confirms the diagnosis.
Early and intensive care is needed. The aim is to control protein loss, swelling and infections. Medicines that reduce protein leakage into the urine and fluid restriction may be used. In some babies the doctor may advise removing the kidneys. This is followed by dialysis and a kidney transplant. An early kidney transplant can bring the disease under control in some children. The doctor who follows the disease decides which treatment is suitable.
This disease is passed on through recessive inheritance. Two changed genes are needed to have the disease; one comes from the mother and one from the father. For a carrier couple, the chance of an affected child in each pregnancy is 1 in 4. The Finnish type is seen most often in families of Finnish origin. In marriages between relatives, the chance of two carriers coming together may be higher. Genetic counselling and testing options during pregnancy can be discussed.
Source: MedlinePlus Genetics: Congenital nephrotic syndrome · MedlinePlus Medical Encyclopedia: Congenital nephrotic syndrome · Orphanet: Congenital nephrotic syndrome, Finnish type (ORPHA:839)
These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.
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
Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.
TürkiyeResearch and clinical trials
At Hacettepe, 29 children with a change in the NPHS1 gene were studied.
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.
ClinicalTrials.gov currently lists no active interventional studies for this disease. Last checked: October 7, 2026.
See all studies on ClinicalTrials.gov · Joining clinical trials
TürkiyeDiagnosis and screening
At Ankara University, 63 adults with kidney disease of unknown cause underwent genetic testing.
TürkiyeResearch and clinical trials
Eye doctors at Başkent University studied the eyes of 34 patients with Alport syndrome.
TürkiyeResearch and clinical trials
At Marmara University, 17 children diagnosed with ARPKD were studied.
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:839
No separate ICD-11 code; WHO classifies this disease under: GB4Z
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.