Genetics of Disorders of Intestinal Digestion and Absorption

Frézal, J; Rey, Jean

doi:10.1007/978-1-4684-0958-1_5

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Cited by 2 publications

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“…Such a model exists in the emphysema which results from a combination of homozygosity for the Z allele at the Pi locus plus cigarette smoking, and where the Z gene is so common that dominant inheritance is mimicked in some families (Kumar et al, 1974). Indeed, coeliac disease has been regarded by some (Burman, 1964;Townley, 1973) as an inborn error of metabolism inherited as an autosomal recessive, though this is doubted by others (Frezal and Rey, 1970), and is not easily reconciled with the HL-A antigen data.…”

Section: Resultsmentioning

confidence: 99%

A family study of coeliac disease.

David¹,

Ajdukiewicz²

1975

Journal of Medical Genetics

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Section: Resultsmentioning

confidence: 99%

A family study of coeliac disease.

David¹,

Ajdukiewicz²

1975

Journal of Medical Genetics

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Celiac disease in patients with sporadic and inherited cardiomyopathies and in their relatives

Not

Faleschini

Tommasini

et al. 2003

European Heart Journal

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We screened anti-human-tissue-transglutaminase (IgA and IgG anti-h-tTG) and anti-endomysial antibodies (AEAs) in 238 consecutive adult patients with inherited or sporadic dilated cardiomyopathy (DCM), 418 relatives, and 2000 healthy blood donors. HLADQ2-DQ8 was tested in tTG-positive subjects. The IgA-tTG-positive patients with cardiomyopathy underwent duodenal biopsy. Twenty-six subjects were tTG-positive: five DCM patients (2.1%), two of 28 (7.1%) and three of 390 (0.7%) relatives with and without echocardiographic abnormalities respectively, and 16 controls (0.8%). Twenty-two of 26 subjects were AEA-positive, and 25 HLA-positive. Of the five patients with cardiomyopathy and biopsy-proven CD, four suffered iron-deficiency anaemia. Two CD-positive DCM patients and two tTG-positive relatives were from families with inherited disease in which CD did not co-segregate with DCM. CONCLUSIONS; The higher prevalence of CD in patients with sporadic or inherited DCM, and of tTG-positive serology in relatives with echocardiographic abnormalities, suggests that immune-mediated mechanisms are active in subsets of patients/families. However, gluten intolerance cannot be considered causative since CD seems to be associated but not co-segregated with DCM in familial cases.

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Genetics of Disorders of Intestinal Digestion and Absorption

Cited by 2 publications

References 235 publications

A family study of coeliac disease.

A family study of coeliac disease.

Celiac disease in patients with sporadic and inherited cardiomyopathies and in their relatives

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