01848nas a2200145 4500008004100000245007500041210006900116260001800185300001100203490000700214520140000221100001801621700002301639856004001662 2022 eng d00aIdentification of CF Mutations and Clinical Symptoms in CBAVD Patients0 aIdentification of CF Mutations and Clinical Symptoms in CBAVD Pa cFebruary 2022 a98-1020 v143 a

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.

Key words: Mutations, Clinical symptoms, CBAVD, Infectious Disease

1 aMafruchati, M1 aMakuwira, Jonathan uhttps://www.phcogj.com/article/1742