hydroxylysine and Cystic-Fibrosis

hydroxylysine has been researched along with Cystic-Fibrosis* in 2 studies

Other Studies

2 other study(ies) available for hydroxylysine and Cystic-Fibrosis

Article	Year
Sibs affected with both Ehlers-Danlos syndrome type IV and cystic fibrosis. American journal of medical genetics, 1998, Aug-06, Volume: 78, Issue:5 We report on the unprecedented combination of two recessively inherited disorders, the kyphoscoliosis type of Ehlers-Danlos syndrome (EDS type VI) and cystic fibrosis (CF), in two sibs born to consanguineous Turkish parents. Because of failure to thrive and bronchitis CF was diagnosed in the index patient early whereas EDS VI was recognized only very late. Both patients had marked muscular hypotonia at birth, delayed gross motor development, progressive kyphoscoliosis, joint dislocations, Marfanoid habitus, hypertrophic and atrophic scars, and osteopenia. EDS VI was proven by collagen studies and the pathognomonic pattern of urinary pyridinolines. Because the genes coding for the two disorders are located on different chromosomes and a chromosomal rearrangement was excluded, we conclude that their combination is a chance association. The cardiopulmonary impairment common to both diseases makes the prognosis dismal. Topics: Amino Acids; Collagen; Consanguinity; Cystic Fibrosis; Ehlers-Danlos Syndrome; Female; Genes, Recessive; Hand Deformities, Congenital; Humans; Hydroxylysine; Infant, Newborn; Nuclear Family; Pedigree; Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase; Prognosis; Radiography; Scoliosis; Turkey	1998
Excretion of urinary collagen metabolites correlates to severity of pulmonary disease in cystic fibrosis. Acta paediatrica Scandinavica, 1988, Volume: 77, Issue:6 The urinary excretion of collagen metabolites (hydroxylysine, hydroxyproline and proline) was significantly increased in 10 patients with cystic fibrosis and chronic broncho-pulmonary Pseudomonas aeruginosa infection as compared with 14 age matched controls. The increase was significantly correlated to impaired pulmonary function (FVC and FEV1). The results indicate that urinary collagen metabolites reflect degradation of lung connective tissue and may be an indicator of the severity of pulmonary disease in cystic fibrosis. Parts of the excreted hydroxyproline may be degradation products of elastin. Topics: Adolescent; Adult; Bronchitis; Cystic Fibrosis; Female; Forced Expiratory Volume; Humans; Hydroxylysine; Hydroxyproline; Male; Pneumonia; Proline; Pseudomonas aeruginosa; Pseudomonas Infections	1988

Article

Year

Sibs affected with both Ehlers-Danlos syndrome type IV and cystic fibrosis.

American journal of medical genetics, 1998, Aug-06, Volume: 78, Issue:5

We report on the unprecedented combination of two recessively inherited disorders, the kyphoscoliosis type of Ehlers-Danlos syndrome (EDS type VI) and cystic fibrosis (CF), in two sibs born to consanguineous Turkish parents. Because of failure to thrive and bronchitis CF was diagnosed in the index patient early whereas EDS VI was recognized only very late. Both patients had marked muscular hypotonia at birth, delayed gross motor development, progressive kyphoscoliosis, joint dislocations, Marfanoid habitus, hypertrophic and atrophic scars, and osteopenia. EDS VI was proven by collagen studies and the pathognomonic pattern of urinary pyridinolines. Because the genes coding for the two disorders are located on different chromosomes and a chromosomal rearrangement was excluded, we conclude that their combination is a chance association. The cardiopulmonary impairment common to both diseases makes the prognosis dismal.

Topics: Amino Acids; Collagen; Consanguinity; Cystic Fibrosis; Ehlers-Danlos Syndrome; Female; Genes, Recessive; Hand Deformities, Congenital; Humans; Hydroxylysine; Infant, Newborn; Nuclear Family; Pedigree; Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase; Prognosis; Radiography; Scoliosis; Turkey

1998

Excretion of urinary collagen metabolites correlates to severity of pulmonary disease in cystic fibrosis.

Acta paediatrica Scandinavica, 1988, Volume: 77, Issue:6

The urinary excretion of collagen metabolites (hydroxylysine, hydroxyproline and proline) was significantly increased in 10 patients with cystic fibrosis and chronic broncho-pulmonary Pseudomonas aeruginosa infection as compared with 14 age matched controls. The increase was significantly correlated to impaired pulmonary function (FVC and FEV1). The results indicate that urinary collagen metabolites reflect degradation of lung connective tissue and may be an indicator of the severity of pulmonary disease in cystic fibrosis. Parts of the excreted hydroxyproline may be degradation products of elastin.

Topics: Adolescent; Adult; Bronchitis; Cystic Fibrosis; Female; Forced Expiratory Volume; Humans; Hydroxylysine; Hydroxyproline; Male; Pneumonia; Proline; Pseudomonas aeruginosa; Pseudomonas Infections

1988