Inflammatory bowel diseases (IBD) is heterogeneous, chronic relapsing disorder. Inappropriate and exaggerated immune response for the luminal antigen is known as a main pathogenesis. Genetic, infectious, and environmental factors are responsible for unbalanced immune response, but the definite pathogenesis is still unclear. Genetic factor is the most important role of all. That is based on high concordance rate of identical twins and family history. The incident rate and prevalence of IBD for the Asian population is relatively lower than Western population, and the lack of NOD2 or TLR4 genetic polymorphisms in Korea and Japanese population suggests the difference in genetic background between Asian and Western population. In Korea, the case of familial aggregation of IBD is pretty rare. We report a case of the daughter with ulcerative colitis and her mother with Crohn's disease who have a -159C/T promoter polymorphism of CD14 gene for IBD.
Antigens, CD14/genetics ; Colitis, Ulcerative/*diagnosis/drug therapy/genetics ; Colonoscopy ; Crohn Disease/*diagnosis/genetics ; Female ; Genetic Predisposition to Disease ; Humans ; Mesalamine/therapeutic use ; Middle Aged ; Mothers ; Polymorphism, Restriction Fragment Length ; Tomography, X-Ray ; Young Adult

Inflammatory bowel diseases (IBD) is heterogeneous, chronic relapsing disorder. Inappropriate and exaggerated immune response for the luminal antigen is known as a main pathogenesis. Genetic, infectious, and environmental factors are responsible for unbalanced immune response, but the definite pathogenesis is still unclear. Genetic factor is the most important role of all. That is based on high concordance rate of identical twins and family history. The incident rate and prevalence of IBD for the Asian population is relatively lower than Western population, and the lack of NOD2 or TLR4 genetic polymorphisms in Korea and Japanese population suggests the difference in genetic background between Asian and Western population. In Korea, the case of familial aggregation of IBD is pretty rare. We report a case of the daughter with ulcerative colitis and her mother with Crohn's disease who have a -159C/T promoter polymorphism of CD14 gene for IBD.
Antigens, CD14/genetics ; Colitis, Ulcerative/*diagnosis/drug therapy/genetics ; Colonoscopy ; Crohn Disease/*diagnosis/genetics ; Female ; Genetic Predisposition to Disease ; Humans ; Mesalamine/therapeutic use ; Middle Aged ; Mothers ; Polymorphism, Restriction Fragment Length ; Tomography, X-Ray ; Young Adult

BACKGROUND/AIMS: Toll-like receptors (TLRs) serve as pattern recognition receptors that recognize specific molecular patterns of pathogens and can mediate the production of proinflammatory cytokines. Recently, TLRs have been identified as susceptibility genes for Crohn's disease (CD) in several studies from Western populations. We investigated the association of genetic variations in TLR4 and TLR9 with CD in Korean population. METHODS: In 380 CD cases and 380 healthy controls, we performed genotyping for TLR4 Asp299Gly (rs4986790) and Thr399Ile (rs4986791). The genetic variations in the TLR9 -1237T/C (rs5743836) were also examined. RESULTS: Among CD patients genotyped for TLR4 Asp299Gly and TLR9 -1237T/C, none had variant alleles. Similarly, none of the subjects genotyped for TLR4 Thr399Ile showed genetic variations. CONCLUSIONS: Our results indicate that the major genetic variations in TLR4 and TLR9 are rare and may not be associated with susceptibility to CD in Koreans.
Adolescent ; Adult ; Alleles ; Asian Continental Ancestry Group/*genetics ; Crohn Disease/diagnosis/ethnology/*genetics ; Female ; Genetic Predisposition to Disease ; Genotype ; Humans ; Male ; Republic of Korea ; Toll-Like Receptor 4/*genetics ; Toll-Like Receptor 9/*genetics

Although the incidence and prevalence rates of IBD in Korea are still lower than Western populations, they have been increasing rapidly during the past decades. Crohn's disease (CD) tends to run in families because it is thought to be related to genetic susceptibility coupled with environmental factors. A large number of monozygotic and dizygotic twin pairs with inflammatory bowel disease have been reported in western countries. The population relative risk in first-degree relatives is considered to be about equal in both Koreans and westerners. To our best knowledge, there is no report in monozygotic twins with CD in Korea. This case report is the first documented occurrence of concordant CD occurring in monozygotic twins in Korea.
Adolescent ; Antimetabolites/therapeutic use ; Azathioprine/therapeutic use ; Colonoscopy ; Crohn Disease/*diagnosis/drug therapy/genetics ; Diseases in Twins/*diagnosis/drug therapy/genetics ; Humans ; Male ; Pedigree ; Tomography, X-Ray Computed ; Twins, Monozygotic/*genetics

Although the incidence and prevalence rates of IBD in Korea are still lower than Western populations, they have been increasing rapidly during the past decades. Crohn's disease (CD) tends to run in families because it is thought to be related to genetic susceptibility coupled with environmental factors. A large number of monozygotic and dizygotic twin pairs with inflammatory bowel disease have been reported in western countries. The population relative risk in first-degree relatives is considered to be about equal in both Koreans and westerners. To our best knowledge, there is no report in monozygotic twins with CD in Korea. This case report is the first documented occurrence of concordant CD occurring in monozygotic twins in Korea.
Adolescent ; Antimetabolites/therapeutic use ; Azathioprine/therapeutic use ; Colonoscopy ; Crohn Disease/*diagnosis/drug therapy/genetics ; Diseases in Twins/*diagnosis/drug therapy/genetics ; Humans ; Male ; Pedigree ; Tomography, X-Ray Computed ; Twins, Monozygotic/*genetics

Peutz-Jeghers syndrome is an autosomal dominant inherited disorder characterized by multiple gastrointestinal hamartomatous polyps and mucocutaneous pigmentation. Peutz-Jeghers syndrome has an incidence of approximately 1 in 25,000 to 300,000 births. Crohn's disease is a chronic inflammatory bowel disease that typically manifests as regional enteritis with its incidence ranging from 3.1 to 14.6 cases per 100,000 person-years in North America. Herein, we report a case of a 30-year-old male patient who had both Peutz-Jeghers syndrome and Crohn's disease. We believe that this is the first case in Korea and the second report in the English literatures on Peutz-Jeghers syndrome coincidentally accompanied by Crohn's disease.
Adult ; Crohn Disease/complications/*diagnosis/pathology ; Endoscopy, Gastrointestinal ; Humans ; Intestinal Obstruction/etiology ; Intestinal Perforation/etiology ; Intestinal Polyps/pathology/surgery ; Male ; Peutz-Jeghers Syndrome/complications/*diagnosis/genetics ; Protein-Serine-Threonine Kinases/genetics

Herpes simplex virus (HSV) is a recognized cause of gastrointestinal infection in immunodeficient patients. Although a few cases of HSV gastritis and colitis in immunocompromised patients have been reported, there are no reports of HSV duodenitis in patients with Crohn's disease (CD). A 74-year-old female was admitted with general weakness and refractory epigastric pain. She had been diagnosed with CD three years ago. Esophagogastroduodenoscopy (EGD) revealed diffuse edematous and whitish mucosa with multiple erosions in the duodenum. Considering the possibility of viral co-infection, cytomegalovirus (CMV) immunohistochemical staining, PCR, and cultures of duodenal biopsies were performed, all of which were negative with the exception of the isolation of HSV in culture. After administration of intravenous acyclovir for 1 week, follow-up EGD showed almost complete resolution of the lesions and the patient's symptoms improved. In CD patients with refractory gastrointestinal symptoms, HSV, as well as CMV, should be considered as a possible cause of infection, so that the diagnosis of viral infection is not delayed and the appropriate antiviral treatment can be initiated.
Acyclovir/therapeutic use ; Aged ; Antiviral Agents/therapeutic use ; Crohn Disease/complications/*diagnosis/virology ; DNA, Viral/analysis ; Duodenitis/complications/*diagnosis ; Endoscopy, Digestive System ; Female ; Herpes Simplex/*diagnosis/drug therapy/virology ; Humans ; Intestinal Mucosa/pathology ; Polymerase Chain Reaction ; Simplexvirus/genetics/*isolation & purification