TürkiyeDiagnosis and screening
In Ankara, symptoms were found to vary widely in 14 patients with Niemann-Pick type C
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
At Ankara City Hospital, 14 patients diagnosed with Niemann-Pick type C were reviewed. The patients ranged in age from 9 days to 24 years. Some came with jaundice in infancy, others with lung or psychiatric symptoms. One blood test was high in all patients. Even siblings carrying the same gene change had different symptoms.
What does it mean for patients and families?
The disease can appear at any age with different symptoms. If someone in your family has been diagnosed, you can talk to your doctor about testing siblings as well.
Source
Scientific paper: Diverse clinical spectrum of Niemann-Pick C: insights from a single center. Journal of Pediatric Endocrinology and Metabolism, 2026. DOI: 10.1515/jpem-2026-0131 · PubMed 42324936
The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).
This page is translated from the Turkish original.
Related disease: Niemann-Pick disease type C (NPC)
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.