Coeliac Disease and HLA-DQ 2 (DQA1* 0501 and DQB1* 0201) in Patients With Turner Syndrome

Rujner, J; Wiśniewski, Andrzej; Gregorek, Hanna; Woźniewicz, B; Młynarski, Wojciech; Witas, Henryk W.

doi:10.1097/00005176-200101000-00033

Cited by 29 publications

(22 citation statements)

References 9 publications

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“…Of note, there was no significant relationship between hypothyroidism (6/13 women with CD) and cluster of differentiation in this audit. All eight previously reported cases of TS and cluster of differentiation that have been subjected to HLA typing have been found to carry HLA-DQ2 (2,5,6). Interestingly, one subject (1/8 or 12.5%) in our study population with positive EMA serology and histologically confirmed CD was HLA-DQ2 and DQ8 negative.…”

Section: Discussionmentioning

confidence: 51%

“…This compares with a European population prevalence of these HLA subtypes of between 20 and 30% (18). There appears to be no increased representation of these genotypes in TS; in the one TS population that has been studied to date, 14/46 (29.1%) were found to be HLA-DQ2 positive, comparable with the general population (6). From these observations, we conclude that a 'second hit' of autoimmune activation of this HLA risk group must be behind the excess of risk of cluster of differentiation in TS.…”

Section: Discussionmentioning

confidence: 70%

“…It has long been recognized that there is an increased incidence of autoimmune disorders in TS (1), with hypothyroidism being the most common. Many studies have reported an increased prevalence of coeliac disease (CD) in TS (2)(3)(4)(5)(6)(7)(8)(9), with prevalences reported of 0-8.1%, compared with 0.5-1.0% in the general population, based on serological screening (10).…”

Section: Introductionmentioning

confidence: 99%

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Serological screening for coeliac disease in adults with Turner's syndrome: prevalence and clinical significance of endomysium antibody positivity

Frost¹,

Band²,

Conway³

2009

European Journal of Endocrinology

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Objective: To investigate the prevalence of coeliac disease (CD) in an adult population with Turner's syndrome (TS). Design: A clinic population with TS was screened using a serological test for CD. Methods: Two hundred and fifty six patients with TS were included in the study. Five patients had existing diagnoses of CD. The remaining 251 asymptomatic patients were screened using an IgA endomysium antibody (EMA) test. Positive cases were offered endoscopy with duodenal biopsy. HLA typing was undertaken in existing cases and new EMA-positive cases. Results: Of the 251 patients screened, eight were found to be EMA positive (3.2%). Seven patients proceeded to duodenal biopsy on which all were confirmed histologically to have cluster of differentiation (2.8%). The prevalence of subclinical cluster of differentiation in the population can therefore be estimated between 2.8 and 3.2%. The total population prevalence of CD, including the previously diagnosed cases, is estimated between 4.7 and 5.1%. Ten patients with histologically confirmed cluster of differentiation underwent HLA typing of which eight were HLA-DQ2 positive, one was HLA-DQ8 positive and one was negative to both HLA-DQ2 and HLA-DQ8. Conclusions: This study demonstrates an increased prevalence of cluster of differentiation in an adult population with TS over the general population. This is consistent with previous data published in paediatric populations.

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Section: Discussionmentioning

confidence: 51%

Section: Discussionmentioning

confidence: 70%

Section: Introductionmentioning

confidence: 99%

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Serological screening for coeliac disease in adults with Turner's syndrome: prevalence and clinical significance of endomysium antibody positivity

Frost¹,

Band²,

Conway³

2009

European Journal of Endocrinology

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“…[15][16][17][18] Patogenezinde ise HLA genlerinin önemli rol oynadığı bilinmekte olup, özel-likle HLADQ2 (%82-100) ve DQ8 ile yakın ilişkide olduğu gösterilmiştir.HLADQ2 bulunmayan hastaların çoğunda DQ8 pozitif saptanmıştır. [34][35][36] Bazen nörolojik semptomlar-epilepsi ve serebellar atakside olduğu gibi-gastrointestinal semptomlar ortaya çıkmadan önce erken dönem ÇH'da da görülebilir. Bu hastalarda glutensiz diet, nörolojik disfonksiyonun tedavisinde yararlı olabilmektedir.…”

Section: Discussionunclassified

Antigliadin Antibodies and Multiple Sclerosis

Türkoğlu¹,

Çömez²,

Gençer³

et al. 2010

Turkiye Klinikleri J Med Sci

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Ö ÖZ ZE ET T A Am ma aç ç: : Multipl skleroz (MS) ve çölyak hastalığı immun aracılı hastalıklardır. Gluten duyarlılığı, genetik yatkınlığı olan kişilerde buğday gliadini başta olmak üzere belli tahıl proteinlerinin alınmasıyla tetiklenen immunolojik bir reaksiyondur. Antigliadin antikorları da bu reaksiyonun göstergesidir. Periferik nöropati, serebellar ataksi ve artmış epilepsi riski gluten hassasiyetinin nörolojik komplikasyonlarıdır. Bu sebeple antigliadin antikorlarını MS hastalarında ölçmeye karar verdik. G Ge er re eç ç v ve e Y Yö ön nt te em ml le er r: : Bu çalış-mada Haydarpaşa Numune Eğitim ve Araştırma Hastanesi II. Nöroloji kliniği MS polikliniğinden takip edilen, 50 MS hastası ile bilinen bir sistemik hastalığı olmayan 52 gönüllü karşılaştırıldı. Antigliadin antikoru (AGA) IgG ve IgA bütün hastalarda çalışıldı. Antiendomisyal antikor (AEA) ise çölyak ayırıcı tanısı için AGA pozitif hastalarda bakıldı. B Bu ul lg gu ul la ar r: : Antigliadin antikoru (AGA) IgG'nin, %30, AGA IgA'nın %12 hastada pozitif olduğu; AEA'nın bakılan tüm hastalarda negatif olduğu saptandı. Kontrol grubunda ise AGA IgG ve IgA %25 ve %7.6 oranında pozitifti. MS ve kontrol grubunda AGA IgG ve IgA sonuçları arasında bir fark görülmedi. IgG ve IgA AGA pozitif olan bütün hastalarda AEA ve histopatolojik çalışma negatifti. Farklı cinsiyet, yaş, klinik seyir ve fonksiyonel tutulumu olan MS hastalarının ortalama AGA IgG ve IgA düzeylerinde anlamlı bir fark yoktu. S So on nu uç ç: : Sistemik otoimmün hastalığa ve immun disfonksiyona yol açmayan, klinik olarak anlam ifade etmeyen otoantikorlar, immünolojik kaskadı bozabilirler. Fakat immün disregülasyona sekonder olarak MS hastalarında diğer otoantikorlarla birlikte antigliadin antikorları da yüksek oranda bulunabilir. Ama bu bulgu anlamlı değildir.A An na ah h t ta ar r K Ke e l li i m me e l le er r: : Multipl skleroz; otoimmünite; antikor afinitesi; otoantikor; antikor oluşumu A AB BS S T TR RA AC CT T O Ob bj je ec ct ti iv ve e: : Multiple sclerosis (MS) and celiac disease are both considered as immune-mediated disorders. The term gluten sensitivity refers to a state of increased immunological responsiveness to ingested gluten in genetically susceptible individuals, as indicated by circulating antibodies to gliadin. Several neurological complications have been described associated with gluten sensitivity ranging from peripheral neuropathy and cerebellar ataxia to an increased risk of epilepsy. So, we decided to measure these antibodies in serum of MS patients. M Ma at te er ri ia al l a an nd d M Me et th ho od ds s: : Fifty MS patients were randomly recruited from MS clinics of Haydarpaşa Numune Training and Research Hospital IInd Neurology Clinic and compared with a control group of 52 healthy volunteers. Antigliadin antibody (AGA) IgG and IgA levels were studied in all patients. Antiendomisial antibody (AEA) in serum was studied in patients who have positive antigliadin antibody for differential diagnosis of celiac disease. R Re es su ul lt ts s: : AGA IgG and AGA IgA were posi...

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“…According to the 1999 Health Care Guidelines of the Down Syndrome Medical Interest Group, an initial screening for celiac disease is recommended at the age of 2 years [13]. Approximately 4-8% of children with Turner syndrome have celiac disease [14][15][16][17][18], and one study revealed an 8% rate in children with Williams syndrome [19]. The North American Society for Pediatric Gastroenterology, Hepatology and Nutrition also recognized increased rates of celiac disease in children with Type 1 diabetes mellitus.…”

mentioning

confidence: 99%