Pycnodysostosis: a case series of eight Saudi patients with cathepsin K gene mutation and a literature review - PubMed
7 days ago
- #Osteopetrosis
- #Pycnodysostosis
- #CTSK gene mutation
- Pycnodysostosis is a rare osteopetrosis subtype caused by mutations in the cathepsin K (CTSK) gene.
- A study of eight Saudi patients (4 males, 4 females) with a mean age of 13 years revealed all had the same CTSK gene mutation (NM_000396.3(CTSK):c.244-29A>G).
- All patients were born to consanguineous parents and had a family history of pycnodysostosis.
- Clinical features included characteristic craniofacial and skeletal deformities, with fractures reported in 7 out of 8 patients.
- All patients received growth hormone therapy (GHT), but responses varied.
- Early genetic screening is crucial for timely diagnosis and intervention, especially in families with a history of the condition.
- Complications like osteomyelitis and recurrent fractures may lead to a more complex clinical course in some patients.