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Dr. Andrew Rynne
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Dr. Andrew Rynne

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Suggest treatment for cystic fibrosis and nasal congestion

Answered by
Dr.
Dr. Diptanshu Das

Pediatrician

Practicing since :2005

Answered : 3803 Questions

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Posted on Tue, 7 Jun 2016 in Genetics
Question: My daughter told me the result of her genetic testing this morning. She carries one gene for CF and is close to 45 yr. old. In her late 20 she had 5 cm of her colon, her spleen and parts of her pancreas removed. She and i both have grass family foods allergies. She used to have severe rashes. I was considered Celiac due to symptoms in 2000. So how does late onset, or "merely" being a carrier affect life? Is there research on this? I hope to get genetic testing results soon. Am 73. Am presently (for the last week) fighting off another nasal congestion problem after getting a severe cold.
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Answered by Dr. Diptanshu Das 1 hour later
Brief Answer:
Management is symptomatic and supportive.

Detailed Answer:
Thanks for asking on HealthcareMagic.

Everyone inherits two copies of the CFTR (cystic fibrosis transmembrane conductance regulator) gene. However, some of the inherited copies are mutations. To date, over 700 mutations of the CFTR gene have been identified. A person with CF inherits two mutated copies of the CFTR gene. These mutations can either be homozygous, the same, or heterozygous, different mutations. The most common mutation is XXXXXXX F508, accounting for approximately 70% of all mutations. The CFTR gene is a protein that functions as a chloride channel. A chloride channel helps maintain the proper balance of salt and water within a cell. A mutation in CFTR causes a dysfunction of the salt and water balance. This causes dehydration of the secretions (thick mucous) and excessive loss of salt in sweat. A carrier is a person who only has one copy of the mutated gene. The parents of a child with CF each carry one CF gene and one normal gene. They have no symptoms and no disease. However, if a carrier contains multiple CFTR mutations, the presentation may vary. The severity of a mutation varies from mutation to mutation (and even from individual to individual). That could perhaps explain the lung related and gastrointestinal problems that your daughter has. She has the mutations from birth and will continue to have those till the rest of her life. Management is supportive and in lines to persons homozygous for CF.

The following links would guide you further:
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Your nasal congestion could actually have basis lying in the genes that you have (and have passed on to your daughter). However, I do not think that genetic testing in your case would prove any useful in terms of intervention.

Regards
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
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