False about cystic fibrosis: (PGI June 2009)
Correct Answer: Associated with 7p chromosome
Description: Ans: C (Associated with 7p chromosome] /Ref: Robbins 7 th/490-95]"The primary defect in cystic fibrosis results from abnormal function of an epithelial chloride channel protein encoded by the cysticfibrosis transmembrane conductance regulator(CFTR) Q gene on chromosome band 7q31.2Q"-Robbins 7th/490Cystic Fibrosis (Mucoviscidosis)Autosomal recessive? inheritanceAppear at any point in life from before birth 9 to much later in childhood or even in adolescence*May leads to chronic lung disease1, pancreatic insufficiency ., steatorrhoea'-', malnutrition, hepatic cirrhosis, intestinal obstruction & male infertility'."In sweat glands duct, ENaC (Epithelial sodium channel) activity decreases as a result ofCFTR mutation; therefore a hypertonic luminal fluid containing both high sweat chloride (the sine qua non of classic CF)& high sodium content is formed .This is the basis of the salty sweat; the mothers can often detect in their affected infant"-Robbins7th/490Biochemical studies indicate that the F5(JH mutation'-' leads to improper processing and intracellular degradation of the CFTR protein. Thus, absence of CFTR in the plasma membrane is central to the molecular pathophysiology of the F508 mutationCF patients exhibit a characteristic sputum microbiology. Haemophilus influenzae Q and S. aureus are often the first organisms recovered from lung secretions in newly diagnosed patients with CF. P. aeruginosa, often mucoid and antibiotic-resistant, is typically cultured from lower respiratory tract secretions thereafter. Burkholderia (formerly Pseudomonas cepacia) is also recovered from CF sputum and is pathogenicDiagnostic biophysical hallmark of CF is the raised transepithelial electric potential difference detected in airway epitheliumLate onset of puberty is common in both males and females with CF
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