Bone accrual and structural changes over one year in youth with cystic fibrosis

Bass, Rosara; Zemel, Babette S.; Stallings, Virginia A.; Leonard, Mary B.; Tsao, Jaime; Kelly, Andrea

doi:10.1016/j.jcte.2022.100297

Cited by 3 publications

(3 citation statements)

References 31 publications

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“…Cystic fibrosis bone disease has been mostly diagnosed in adult patients, but several studies indicate that bone defects appear early in life. Indeed, children with cystic fibrosis already have bone alterations [ 54 , 55 , 56 , 57 , 58 ] which increase with age [ 59 ]. The progressive bone loss [ 48 ] in cystic fibrosis patients correlates with reduced lung function [ 60 , 61 , 62 ], recurrent pulmonary exacerbations [ 63 ], inflammation [ 64 ] and reduced muscle strength [ 65 ].…”

Section: Cystic Fibrosis-related Bone Diseasementioning

confidence: 99%

Cystic Fibrosis Bone Disease: The Interplay between CFTR Dysfunction and Chronic Inflammation

et al. 2023

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Cystic fibrosis is a monogenic disease with a multisystemic phenotype, ranging from predisposition to chronic lung infection and inflammation to reduced bone mass. The exact mechanisms unbalancing the maintenance of an optimal bone mass in cystic fibrosis patients remain unknown. Multiple factors may contribute to severe bone mass reduction that, in turn, have devastating consequences in the patients’ quality of life and longevity. Here, we will review the existing evidence linking the CFTR dysfunction and cell-intrinsic bone defects. Additionally, we will also address how the proinflammatory environment due to CFTR dysfunction in immune cells and chronic infection impairs the maintenance of an adequate bone mass in CF patients.

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Section: Cystic Fibrosis-related Bone Diseasementioning

confidence: 99%

Cystic Fibrosis Bone Disease: The Interplay between CFTR Dysfunction and Chronic Inflammation

et al. 2023

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“…We found the article “Bone accrual and structural changes over one year in youth with cystic fibrosis” by Rosara M.Bass et al [1] to be of great interest. The study investigated bone changes over one year in individuals aged 5–18 with both cystic fibrosis (CF).…”

mentioning

confidence: 99%

“…The study accounted for the following patient demographics: weight, height, age, pubertal status, and gender [1] . Although these are important factors, we believe it is important to consider the impact of patient ethnicity on the development of structural changes in the bone.…”

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confidence: 99%

Considering the impact of patient ethnicity on cystic fibrosis related bone disease

Kabuli¹,

Akbari²,

Alam³

2022

Journal of Clinical & Translational Endocrinology

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Associations of the <i>VDR</i> gene with clinical manifestations and complications of cystic fibrosis

Loshkova

Kondratyeva

Zhekaite

et al. 2023

Pulʹmonologiâ (Mosk.)

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Cystic fibrosis (CF) is the most common severe autosomal recessive disease in the Caucasoid population caused by mutations in the CF transmembrane regulator (CFTR) gene. However, the course of the disease may be modulated by genetic factors other than the CFTR gene and may be pleiotropically influenced by VDR (Vitamin D Receptor) gene. The aim of the study was to search for associations between genetic variants (c.1206T>C(A>G), c.152T>C, c.1174+283G>A) of VDR gene and clinically significant manifestations of CF, complications, and responses to therapy. Methods. Patients with CF (n = 283) and healthy children (n = 333), who formed the control group, were examined. Calcidiol levels were tested in all subjects. Polymorphic variants of VDR gene (c.1206T>C(A>G), c.152T>C, c.1174+283G>A) were tested by polymerase chain reaction and restriction fragment length polymorphism analysis. Results. It was found that carriers of the TT genotype of the c.152T>C FokI variant of VDR gene are 6.3 times more likely to develop meconium ileus (odds ratio – OR – 6.375; p = 0.011), 3.2 times more likely – respiratory failure (OR – 3.253; p = 0.079), 3.4 times more likely – chronic lung infection (CIL) caused by Pseudomonas aeruginosa (OR – 3.432; p = 0.026), and 4 times more likely – CIL caused by non-fermenting gram-negative bacteria (OR – 4.056; p = 0.009). Carriers of the CC genotype of the c.1206T>C(A>G) TaqI genetic variant use systemic corticosteroids more frequently (66% vs 7%) (OR – 0.034; p = 0.001). It was shown that the AA genotype of the BsmlI polymorphism (c.1174 + 283G>A) is 4 times more likely to be detected in children with CF-associated liver diseases (OR – 4.300; p = 0.051). Conclusion. The contribution of all studied genetic variants c.1206T>C(A>G) TaqI, c.152T>C FokI, BsmlI (c.1174+283G>A) of the VDR gene to the clinical manifestations, complications and response to therapy in CF is described.

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Bone accrual and structural changes over one year in youth with cystic fibrosis

Cited by 3 publications

References 31 publications

Cystic Fibrosis Bone Disease: The Interplay between CFTR Dysfunction and Chronic Inflammation

Cystic Fibrosis Bone Disease: The Interplay between CFTR Dysfunction and Chronic Inflammation

Considering the impact of patient ethnicity on cystic fibrosis related bone disease

Associations of the <i>VDR</i> gene with clinical manifestations and complications of cystic fibrosis

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