Introduction
It is reported that there are currently about 7,000 rare diseases confirmed internationally, and there are more than 20 million rare disease patients in my country, with more than 200,000 new patients every year . Rare diseases generally have the characteristics of heredity, childhood onset, and severe disease. Because of their “rareness”, these diseases often lack epidemiological data, have limited means of diagnosis and treatment, are difficult from diagnosis to treatment, and have a high rate of missed and misdiagnosed diseases. Rare disease groups need more visibility and attention.
Common clinical symptoms of gastroenterology include abdominal pain, jaundice, nausea, vomiting, etc. There are a small number of these symptoms behind Caused by rare or uncommon diseases of the digestive system, it is extremely difficult to identify, but has high morbidity and mortality rates. Understanding rare and rare digestive system diseases has important clinical significance for better differential diagnosis of digestive system symptoms. This article summarizes 4 rare diseases that may be encountered by the gastroenterology department, for the benefit of all colleagues.
01< /strong>
Powitz–Jaeger syndrome
Boy PJS-Jegger syndrome (PJS), also known as polyposis melanogaster syndrome, is autosomal dominant inheritance, and is a type of mucous membrane and skin hyperpigmentation Gastrointestinal polyposis. The disease increases the risk of developing gastrointestinal and non-gastrointestinal cancers, often with benign or malignant tumors of the reproductive system and many other organs.
The incidence of PJS is about 1/200,000, and the prevalence is 1/200,000~1/8,000. It is related to the geographical environment in which the patient lives, and not closely related to gender and race.
Clinical manifestations:PJS is characterized by pigmented skin and mucous membranes and multiple polyps in the gastrointestinal tract. Pigmentation can appear at an early age, usually before 2 years of age, and is seen in more than 95% of patients. Pigmentation can be brown, tan, gray and blue, etc., more common in the lips and around, cheeks, face, finger skin, occasionally in the intestinal mucosa. Gastrointestinal polyps mostly occur between the ages of 11 and 13 years, and are seen in 88% to 100% of patients. They can occur in the entire gastrointestinal tract, and are most common in the small intestine, followed by the colon and stomach.
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P >JS TreatmentProcess▲
02
Progressive familial intrahepatic cholestasis
Progressive familial intrahepatic cholestasis Stasis syndrome (PFIC) is a group of autosomal recessive disorders. Intrahepatic cholestasis occurs due to bile excretion disorder caused by gene mutation, which can eventually develop into liver failure.
According to different pathogenic genes, PFIC is mainly divided into 3 types – PFIC-1, PFIC-2 type and PFIC-3 type. The incidence of PFIC-1 and PFIC-2 types is 1/100000~1/50000.
Clinical manifestations: The typical clinical manifestations of PFIC are: jaundice and skinitching. Other symptoms include developmental delays such as short stature, delayed puberty, gallstones, and fat absorption disorders.steatorrhea, hepatosplenomegaly, and rickets, delayed bone age, dry eye, coagulation disorders, and neuromuscular disorders due to deficiencies in fat-soluble vitamins.
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Tbil, total bilirubin; Dbil, conjugated bilirubin; TBA , total bile acids; ALT, alanine aminotransferase; GGT, glutamyl transpeptidase
3
span>Congenital disorders of bile acid synthesis
Congenital disorders of bile acid synthesis (IEBAS) is due to the Inborn errors of bile acid synthesis caused by genetic defects of the enzymes necessary for the synthesis of the two major bile acids. IEBAS is a class of autosomal recessive genetic diseases.
Clinical manifestations:The main clinical manifestation of IEBAS is highly bound biliary In erythroemia, malabsorption of fat-soluble vitamins, such as rickets, is common.
IEBAS >Diagnosis and treatment process▲
Tbil, total bilirubin; Dbil, combined with bilirubin rubin; TBA, total bile acids; ALT, alanine aminotransferase; GGT, glutamyl transpeptide Enzymes
▲IEBAS governance< span>Therapeutic Process▲
04
cryptogenic multifocal ulcerative stenotic enteritis< /strong>
Cryptogenic multifocal ulcerative stenosing enteritis (CMUSE) is a rare ulcerative disease of the small bowel with unclear pathogenesis disease.
CMUSE is involving only the small bowel with recurrent multiple superficial ulcers and bowel Lumen sclerosis stenosis. The main clinical manifestations were recurrent abdominal pain, diarrhea, nausea, vomiting, melena, anemia, hypoproteinemia, malnutrition, etc.. It is pathologically characterized by superficial ulcers confined to the mucosa and submucosa. Imaging combined with enteroscopy has a high diagnostic value for the disease. Glucocorticoid therapy is effective, but prone to dependence. For patients with glucocorticoid dependence or ineffectiveness, immunosuppressive agents can be considered. Enteral nutrition is also effective. The efficacy of biological agents needs further study. .
References:[1] International Rare Disease Day: About 20 million rare disease patients in my country More than 200,000 people are added every year.https://baijiahao.baidu.com/s?id=1726003737971912425&wfr=spider&for=pc[2] Zhang Shuyang, Zhao Yupei. Rare Diseases [M]. Beijing: People’s Health Publishing House. 2022:261-274.[3] Guidelines for the diagnosis and treatment of rare diseases (2019 edition)[4] Zhang Jialin, Sun Jing. Research progress of cryptogenic multifocal ulcerative stenotic enteritis [J]. Chinese Journal of Digestive Medicine, 2020, 40(8):3 .
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