Growth parameters and calcium homeostasis in cystic fibrosis patients with CFTR I1234V mutation

Wahab, Atqah Abdul; Soliman, Ashraf T.; Rahman, Mohamed Osman Abdel

doi:10.4103/0256-4947.57176

Cited by 4 publications

(4 citation statements)

References 4 publications

(4 reference statements)

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“…The most striking finding in our study was that subjects with CF had significantly low serum 25[OH]D. About 76.9% of our patients with CF had 25[OH]D levels below 30 ng/mL, the suggested cutoff proposed by the Consensus Conference of the Cystic Fibrosis Foundation. Recently, we have reported a high prevalence of vitamin D deficiency despite normal pancreatic exocrine function, which might be related to the hot climate of the Arabian Gulf region and the usual traditional cloth that covers most of the body, and, in addition, they stay mainly indoors and may not have much adequate direct exposure to sun [ 22 ]. In agreement with the recent study, it has been reported that inefficient levels of vitamin D are common and contribute significantly to impaired bone health and underline the need for higher supplementation doses in CF patients [ 23 ].…”

Section: Discussionmentioning

confidence: 99%

“…In agreement with the recent study, it has been reported that inefficient levels of vitamin D are common and contribute significantly to impaired bone health and underline the need for higher supplementation doses in CF patients [ 23 ]. In another study the result of an audit of DEXA scan was reported for 108 adults with CF; the most common risk factors for bone loss were vitamin D deficiency (89%), low body mass (39%), and post-lung transplantation (25%) [ 22 ]. However, there are conflicting reports regarding the correlation between 25[OH]D levels and decreased BMD [ 20 – 22 ].…”

Section: Discussionmentioning

confidence: 99%

“…In another study the result of an audit of DEXA scan was reported for 108 adults with CF; the most common risk factors for bone loss were vitamin D deficiency (89%), low body mass (39%), and post-lung transplantation (25%) [ 22 ]. However, there are conflicting reports regarding the correlation between 25[OH]D levels and decreased BMD [ 20 – 22 ]. Closer monitoring of vitamin D status in CF patients may be warranted because appropriate interventions at an early age may decrease the prevalence and severity of bone disease later in life.…”

Section: Discussionmentioning

confidence: 99%

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Bone Mineral Density in Cystic Fibrosis Patients with the CFTR I1234V Mutation in a Large Kindred Family Is Associated with Pancreatic Sufficiency

Wahab

Hammoudeh

Allangawi

et al. 2014

International Journal of Rheumatology

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Objectives. To study bone mineral density (BMD) in cystic fibrosis (CF) children and adults with the CFTR I1234V mutation associated with pancreatic sufficiency. Methods. Lumbar spine, total hip, and whole-body mineral density were measured by dual-energy radiographic absorptiometry (DEXA) scan. Z score was used for those less than 21 years and T score was used for those 21 years or older. Results. Twenty-one CF patients were younger than 21 years and 5 CF patients were 21 years or older. Mean age was 17.29 ± 4.95 years, ranging from 10 to 33 years. The mean BMD Z scores for patients younger than 21 years were −0.69 ± 0.96 (lumbar spine = L1–L4), −0.48 ± 0.92 (total hip), and −0.38 ± 0.86 (total body). The mean T scores for patients 21 years or older were 0.14 ± 0.7 (L1–L4), 0.38 ± 1 (total hip), and 0.52 ± 1.03 (total body). BMD reduction less than −1 was found in 7 (26.9%) CF patients. Vitamin D deficiency in 20 CF patients (76.9%) tended to be lower in CF patients with low BMD. BMD was significantly correlated with FEV1; however, no significant association was observed with P. aeruginosa colonization. Conclusion. BMD reduction does occur in patients with mild CFTR mutation associated with pancreatic sufficiency.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Bone Mineral Density in Cystic Fibrosis Patients with the CFTR I1234V Mutation in a Large Kindred Family Is Associated with Pancreatic Sufficiency

Wahab

Hammoudeh

Allangawi

et al. 2014

International Journal of Rheumatology

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“…Sweat chloride concentrations [24] and growth parameters as well as calcium homeostasis [25] among CF patients with the I1234V mutation were investigated by researchers in 2009. Saadoon et al studied nitric oxide levels among CF patients and found them to have lower fractional exhaled nitric oxide levels in comparison with controls [26].…”

Section: The History Of Cystic Fibrosis In Qatarmentioning

confidence: 99%

Approaching two decades of cystic fibrosis research in Qatar: a historical perspective and future directions

Hammoudeh

Gadelhak

AbdulWahab

et al. 2019

Multidiscip Respir Med

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Cystic fibrosis (CF) is a genetic disease caused by a defect of CF transmembrane conductance regulator (CFTR) gene. CF affects multiple systems, predominantly with respiratory involvement. In Qatar, researchers have been exploring various aspects of the disease for almost 20 years. PubMed and Google Scholar were reviewed for articles related to CF in Qatar. The first publication appeared in the year 2000. Since then, several studies have been conducted on CF patients in Qatar considering a variety of topics. The presence of the CFTR I1234V mutation in a certain Arab tribe stands out as a distinguishing characteristic of CF patients in Qatar when compared to the larger Arab region or even worldwide. We aim here to summarize the existing CF research conducted in Qatar over the years as well as to introduce topics for future research.

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An Overview of the Homozygous Cystic Fibrosis Transmembrane Conductance Regulator Mutation c.3700 A>G (p.Ile1234Val) in Qatar

et al. 2019

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Purpose of Review Cystic fibrosis (CF) is a monogenic recessive disease with multisystem involvement. The cause is a mutation in the gene that encodes the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The aim is to review the literature involving the CFTR I1234V mutation and to provide recommendations for future research activities. Recent Findings The prevalence rates of CFTR mutations vary across the globe. The CFTR I1234V mutation is the most common mutation in Qatar, and one of the most common in the Arabian Gulf region. Summary Areas for future research include testing of the CFTR transcript and activity levels in different samples including nasal cells and organoids. Another area is applying Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) technology as a tool for gene editing.

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Growth parameters and calcium homeostasis in cystic fibrosis patients with CFTR I1234V mutation

Cited by 4 publications

References 4 publications

Bone Mineral Density in Cystic Fibrosis Patients with the CFTR I1234V Mutation in a Large Kindred Family Is Associated with Pancreatic Sufficiency

Bone Mineral Density in Cystic Fibrosis Patients with the CFTR I1234V Mutation in a Large Kindred Family Is Associated with Pancreatic Sufficiency

Approaching two decades of cystic fibrosis research in Qatar: a historical perspective and future directions

An Overview of the Homozygous Cystic Fibrosis Transmembrane Conductance Regulator Mutation c.3700 A>G (p.Ile1234Val) in Qatar

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