A Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1 - PubMed
3 hours ago
- #Kabuki Syndrome
- #Cystic Fibrosis
- #Genetic Testing
- A 9-year-old girl was diagnosed with both Kabuki Syndrome Type 1 and Cystic Fibrosis (CF) through molecular genetic testing.
- Clinical features of Kabuki Syndrome included a typical facial phenotype, short stature, intracranial hypertension, and diffuse muscular hypotonia.
- Additional symptoms included chronic otitis media, conjunctivitis, recurrent pneumonia, hearing loss, astigmatism, and primary adenitis.
- Genetic testing identified a pathogenic variant in the KMT2D gene (de novo) and two variants in the CFTR gene (inherited from parents).
- The proband's sister carried the same CFTR genotype but was clinically unaffected.
- Functional assessment of CFTR showed preserved function, ruling out CF or CFTR-related disorders despite the genetic findings.
- The study highlights the complexity of diagnosing concurrent hereditary disorders and the importance of genetic testing in clinical evaluation.