Children cystic fibrosis

Age does not significantly affect plasma concentrations or disposition of ibuprofen however, investigators have determined that the onset of antipyresis and maximum antipyretic effect is greater in children less than one year old as compared to children older than 6 years [43]. The authors hypothesized that this accelerated response was related to the greater relative body surface area of the young child. It should be noted that cystic fibrosis patients do have a higher clearance of ibuprofen [43a]. 

B. Saggers and D. Lawson, In vivo penetration of antibiotics into sputum in cystic fibrosis, Arch. Dis. Child., 43, 404 (1968). 

Among its many other applications, DNA fingerprinting is widely used for the diagnosis of genetic disorders. Cystic fibrosis, hemophilia, Huntington s disease, Tay-Sachs disease, and sickle-cell anemia are among the many diseases that can be detected, enabling early treatment of an affected child. In addition, the U.S. Department of Defense now requires blood and saliva samples from all military personnel. The samples are stored, and DNA is extracted should the need for identification of a casualty arise. 

Carter, E.P., et al. 1984. Improved sweat test method for the diagnosis of cystic-fibrosis. Arch Dis Child 59 919. 

Parsons DW. Airway gene therapy and cystic fibrosis. J Paediatr Child Health. 2005 41 94-96. 

Byrne, N. M., Keavey, P. M., Perry, J. D., Gould, F. K., and Spencer, D. A. (2003), Comparison of lung deposition of colomycin using the HaloLite and the pari LC plus nebu-lisers in patients with cystic fibrosis, Arch. Dis. Child., 88,715-718. 

Most children with cystic fibrosis are diagnosed within one year of birth. Often the symptoms observed in a child, which eventually lead to diagnosis, are malabsorption, failure to gain weight and recurrent respiratory infections. 

Cystic fibrosis patients are usually advised to take more than the recommended daily amounts of these vitamins in order to prevent deficiency. A common problem associated with poor absorption of fat-soluble vitamins is deficiency of vitamin K. Vitamin K is required by the liver to produce many blood coagulation factors. Part of the problem for cystic fibrosis patients is their chronic antibiotic therapy, which decreases the bacterial population of the colon colonic bacteria synthesize vitamin K. Vitamin K deficiency leads to prolonged blood-clotting time. Vitamin D deficiency could cause rickets in a child or osteomalacia in adults. Vitamin A deficiency leads to night blindness, skin and other ocular defects. 

Munera PA, Perel JM, Asato M. Medication interaction causing seizures in a patient with bipolar disorder and cystic fibrosis. J Child Adolesc Psychopharmacol 2002 12(3) 275-6. 

Ginics, J.L., Couetil, J.R, Honssin, D., Guillemain, R., Champion, G., Bernard, O. Hepatopulmonary syndrome in a child with cystic fibrosis. J. Pediatr. Gastroenterol. Nutr. 1996 23 497-500... 

Hearing loss was attributed to repeated exposure to aminoglycosides in 12 of 70 patients with cystic fibrosis (one child) (25). There was a non-linear relation between the number of courses of therapy and the incidence of hearing loss. The severity of loss was not related to the number of courses. Assuming that the risk of hearing loss was independent of each course, the preliminary estimate of the risk was less than 2 per 100 courses. 

Douchain F, Hode E, Paul JC, Bakhache P, Pautard JC. Priapisme aigu apres une perfusion d emulsion lipidique a 10 p. 100 chez un enfant mucoviscidosique. [Acute priapism after infusion of 10% fat emulsion in a child with cystic fibrosis.] Presse Med 1990 19(9) 429. 

Cunningham S, Prasad A, CoUyer L, Carr S, Lynn IB, Wallis C. Bronchoconstriction following nebulised colistin in cystic fibrosis. Arch Dis Child 2001 84(5) 432-3. 

Feces from chEdren may be screened for tryptic activity to detect cystic fibrosis. In the infant, fecal material for these tests is usually recovered from the child s diaper. See Chapter 21 for a discussion of the measurement of trypsin in feces. 

Marshall LM, Francis PW, Khafagi FA. Aerosol deposition in cystic fibrosis using an aerosol conservation device and a conventional jet nebulizer. J Paediatr Child Health 1994, 30, 65 67. 

The answer is a. (Murray, pp 627-661. Scriver, pp 3897-3964. Sack, pp 121-138. Wilson, pp 287-320.) Vitamins A, D, E, and K are all fat-soluble. The physical characteristics of fat-soluble vitamins derive from the hydrophobic nature of the aliphatic chains composing them. The other vitamins listed are water-soluble, efficiently administered orally, and rapidly absorbed from the intestine. Fat-soluble vitamins must be administered intramuscularly or as oral emulsions (mixtures of oil and water). In intestinal disorders such as chronic diarrhea or malabsorption due to deficient digestive enzymes, fat-soluble vitamins are poorly absorbed and can become deficient. Supplementation of fat-soluble vitamins is thus routine in disorders like cystic fibrosis (219700), a cause of respiratory and intestinal disease that is the likely diagnosis in this child. 

A woman with cystic fibrosis (219700) marries her first cousin. What is the risk that their first child will have cystic fibrosis ... 

A man whose brother has cystic fibrosis wants to know his risk of having an affected child. The prevalence of cystic fibrosis is 1 in 1600 individuals. The risk in this case is... 

A woman who married her first cousin wants to know the risk of having a child with cystic fibrosis because her grandmother, who is also her husband s grandmother, died of cystic fibrosis. Her risk is... 

The answer is h. (Murray, pp 812-828. Scriver, pp 3-45. Sack, pp 97-158. Wilson, pp 59-78.) The grandmother has cystic fibrosis, so her children are obligate carriers. Each cousin therefore has a 1/2 chance of being a carrier. The woman s risk is 1/2 x 1/2 x 1/4 = 1/16 chance of having an affected child. This illustrates the effects of consanguinity. 

Beardsmore CS, Thompson JR, Williams A, et al. Pulmonary function in infants with cystic fibrosis The effect of antibiotic treatment. Arch Dis Child 1994 71 133-137. 

Cystic fibrosis is relatively common, being encountered in I/I6(X) Caucasian births. It is an autosomal recessive condition. Around one in twenty-two of the population arc carriers, making the dis-ca.se one of the most common serious genetic abnonnalities. The disease affects c. iK-rine secretions, and the onset of the disease may be at birth or later in child-h(KKi. Newborn screening has been largely unsuccessful, and traditional confirmation of the disea.se depended on the demonstration of an increased chloride concentration in a. sample of sweat. 

A male infant has cystic fibrosis. He has two sisters and a brother. His mother and father are unrelated and appear well although his maternal uncle died as a child with the disease. 

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