Clinical Analysis And Gene Sequencing Of Cronkhite-Canada Syndrome

BackgroundCronkhite–Canada syndrome(CCS)is a rare syndrome first described in 1955.The disease is characterized by diffuse gastrointestinal polyposis,dystrophic changes of the fingernails,alopecia,cutaneous hyperpigmentation,diarrhea,weight loss,and abdominal pain.The diagnosis is based on history and physical examination,imaging,and endoscopy with biopsy to confirm gastrointestinal polyposis.The etiology of the disease is unknown.No evidence exists to suggest a familial predisposition.The possibilities of symptomatic offspring or afflicted patients have not been excluded.There are currently no treatment guidelines and glucocorticoid therapy is effective.And,in 2013,Vijaya Patil of India reported two familial cases-a 50-year-old male patient with chronic diarrhea and upper abdominal pain since 1 year,hyperpigmentation of the hands and feet,hair loss,anorexia,hypothalamus and Weight loss;Another example is his 22-year-old son,asymptomatic,with pigmentation on the face and palms,with mild hair loss.Gastroscopic examination revealed multiple polyps in both cases.This suggests that CCS may be familial.PurposeObjective: to investigate the treatment,monitoring,prognosis,and familial and hereditary of Cronkhite-Canada syndrome.MethodsThree patients with Cronkhite-Canada syndrome were treated in our hospital,and 2 of them were familial,and their first-degree relatives were sequenced.2 adult patients were treated with glucocorticoid regimen,2 of them were treated with glucocorticoid regimen,2 of them were treated with glucocorticoid regimen,2 of them were familial,and 2 of them were treated with glucocorticoid regimen.A young patient was treated with 5-aminosalicylic acid(5-aminosalicylic acid).Gastrointestinal endoscopy was reviewed regularly to observe the changes of the condition and polyps.Result1.APC gene c.3921-3925 del AAAAG(p.Ile1307 fs X6)site heterozygous mutation was found in familial patients.2.Non-familial patient did not find a pathogenic mutation site associated with the disease phenotype.3.Cases treated with glucocorticoids improved,and there were no significant changes in gastrointestinal polyps in patients treated with 5-aminosalicylic acid.Conclusions1.In this study,both mother and child were suffering from CCS,and there was a mutation at the same site of the APC gene,suggesting that CCS may be familial and hereditary.2.Mutation of the gene APC c.3921-3925 del AAAAG(p.Ile1307 fs X6)may be related to the occurrence of CCS3.3.Glucocorticoid treatment of CCS can alleviate the condition and reduce polyps.4.In this study,there was no ectodermal appearance in the study,which required long-term observation.This study only carried out polyposis-related gene detection,and perfecting whole-genome sequencing may lead to more positive conclusions.