Non responsive celiac disease due to coexisting hereditary fructose intolerance

Bharadia, Lalit; Shivpuri, D N

doi:10.1007/s12664-012-0169-1

Cited by 7 publications

(6 citation statements)

References 9 publications

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“…Worldwide, common mutations such as p.A149P mutation, which showed a founder effect in studies, have simplified the diagnostic strategy in certain populations (Brooks and Tolan 1993). There is a paucity of literature on HFI and ALDOB gene studies from India, as only few case reports, without mutations, have been reported (Bharadia and Shivpuri 2012;Ananth et al 2003). This is the first report of mutations in the ALDOB gene from India.…”

Section: Discussionmentioning

confidence: 90%

Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India

et al. 2014

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Hereditary fructose intolerance (HFI) is a difficult-to-confirm diagnosis, requiring either invasive liver biopsy-enzyme assay or potentially hazardous fructose challenge test or expensive molecular genetic analysis. Therefore, worldwide there has been a trend towards finding "common mutations" in distinct ethnic groups to simplify the process of diagnosis. The nonspecific presentation of the disease often leads to diagnostic confusion with other metabolic liver disorders such as glycogenoses, galactosemia, and tyrosinemia. This leads to much delay in diagnosis with consequent harm to the patient.We report mutations in the ALDOB gene, from eleven Indian patients, seven of whom belong to the Agarwal community. Six patients from the Agarwal community and two non-Agarwal patients harbored one novel mutation, c.324+1G>A (five homozygous and one heterozygous), in the ALDOB gene. Haplotyping performed in families confirmed a founder effect. The community has been known to harbor founder mutations in other genes such as the MLC1, PANK2, and CAPN3 genes, thus providing another evidence for a founder effect in the community in case of HFI. This may pave the path for a simpler and quicker test at least for this community in India. In addition to the founder mutation, we report four other novel mutations, c.112+1delG, c.380-1G>A, c.677G>A, and c.689delA, and a previously reported mutation, c.1013C>T, in the cohort from India.

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Section: Discussionmentioning

confidence: 90%

Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India

et al. 2014

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Section: Discussionmentioning

confidence: 99%

“…To the best of our knowledge, there are only few case reports presenting patients of coexisting CD and HFI [ 15 , 16 , 17 ]. Bharadia et al [ 15 ] reported a case of a 22-month-old boy with recurrent diarrhea and vomiting. Duodenal biopsy was assessed as Marsh IIIa (partial villous atrophy, crypt hyperplasia and increased intraepithelial lymphocytes).…”

Section: Discussionmentioning

confidence: 99%

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Celiac Disease in Conjunction with Hereditary Fructose Intolerance as a Rare Cause of Liver Steatosis with Mild Hypertransaminasemia—A Case Report

et al. 2021

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Celiac disease (CD) has been associated with several genetic and autoimmune disorders, but its association with hereditary fructose intolerance (HFI) is very rare. The possibility of an association between CD and HFI should be considered, especially in patients with a lack of improvement after a gluten-free diet. Children with HFI often present with a wide range of symptoms, however, data about a strong aversion to fruits and sweets may be helpful to establish the diagnosis. The diagnosis of HFI should be confirmed in genetic testing. Both CD and HFI may present with liver steatosis with hypertransaminasemia. In patients with these two disorders, the dietary restrictions of gluten and fructose improve clinical symptoms and protect them from secondary complications. We report the case of a child with the concurrence of these two disorders.

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“…*********************************************** QNGLVPIVEPEVIPDGDHDLEHCQYVTEKVLAAVYKALNDHHVYLEGTLLSPTW------233 ********************************************** ***.*. There is a paucity of literature on HFI and ALDOB gene studies from India, as only few case reports, without mutations, have been reported (Bharadia and Shivpuri 2012;Ananth et al 2003). Worldwide, common mutations such as p.A149P mutation, which showed a founder effect in studies, have simplified the diagnostic strategy in certain populations (Brooks and Tolan 1993).…”

Section: Discussionmentioning

confidence: 99%