Identification of CF Mutations and Clinical Symptoms in CBAVD Patients

M. Mafruchati, Jonathan Makuwira

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)


CBAVD has a prevalence or morbidity rate of 1-2 percent and has an association with low sperm count and damage, including being associated with recessive inherited genetic disorders. In 1971, several men with CBAVD were identified and had an association with mild cystic fibrosis. The classic clinical symptoms of cystic fibrosis are chronic diseases of the lungs, exocrine disorders of the pancreas, increased electrolyte levels in the sweat glands. It is based on various studies that the mutation frequency in CFTR is very high in patients with CBAVD compared to non-CBAVD patients. The 5 T allele on intron 8 causes changes in amino acids that is elevated when there is translation in the mRNA. The 5 T variant is a common mutation associated with the CBAVD phenotype and clinical symptoms. The method used in writing this review article is online literature studies obtained by accessing national and international scientific journals as well as scientific articles related to CF mutation and clinical symptoms. From the results of research that has been done, mutations in CBAVD patients have differences in clinical symptoms and require further study, especially with regard to the immunological expression profile in patients using animal models.

Original languageEnglish
Pages (from-to)98-102
Number of pages5
JournalPharmacognosy Journal
Issue number1
Publication statusPublished - Jan 2022


  • Clinical symptoms
  • Infectious Disease
  • Mutations


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