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Congenital Enteropathy due to Enteropeptidase Deficiency

Idiopathic Bile Acid Malabsorption


Presentation

  • Confirm each diagnosis by consulting a section, organized by symptoms, that presents the full range of differential diagnoses and treatment options for each specific condition.[books.google.com]
  • Although diarrhea is a key feature of malabsorption, it may not be apparent at presentation; the only symptom may be poor growth.[pedsinreview.aappublications.org]
  • ORPHA:168601 Synonym(s): Congenital enterokinase deficiency Prevalence: - Inheritance: Autosomal recessive Age of onset: Infancy , Neonatal ICD-10: K90.8 OMIM: 226200 UMLS: C0268416 MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented[orpha.net]
  • Diarrhea, weight loss, flatulence, abdominal bloating, abdominal cramps, and pain may be present.[en.wikipedia.org]
  • Although ulcerative colitis happens mainly in the colon, it is a systemic disease, and patients may present with symptoms and complications outside the colon.[medical-dictionary.thefreedictionary.com]
Malnutrition
  • There are several high-risk scenarios for the development of malnutrition, which are the focus of the current publication: Atopic diseases, gastrointestinal disorders, and preterm delivery.[books.google.de]
  • Chronic enteropathy with subsequent persistent diarrhea and associated vicious cycles of malnutrition, increased gut permeability and secondary immunodeficiency are particularly devastating in the childhood population.[karger.com]
  • The pediatrician must be able to recognize the various manifestations of malabsorption (Table 1) to establish an early diagnosis and initiate treatment with the aim of avoiding long-term complications of malnutrition.[pedsinreview.aappublications.org]
  • [Malnutrition in congenital deficiency of enterokynase (author's transl)]. Amat L, Martín E, Matéu L, Rubio C, Ballesta A. An Esp Pediatr. 1978 Mar;11(3):219-26. Spanish. PMID: 96718 Similar articles[ncbi.nlm.nih.gov]
Anemia
  • New chapters, expanded and updated coverage, increased worldwide perspectives, and many new contributors keep you current on the late preterm infant, the fetal origins of adult disease, neonatal anemia, genetic disorders, and more. "...a valuable reference[books.google.com]
  • Mitochondrial DNA depletion syndrome, hepatocerebrorenal form Neonatal hemochromatosis Neonatal ichthyosis-sclerosing cholangitis syndrome Neonatal inflammatory skin and bowel disease Non-hypoproteinemic hypertrophic gastropathy Pancreatic insufficiency-anemia-hyperostosis[se-atlas.de]
  • For example, there is increasing epidemiologic evidence that more patients with coeliac disease present with anemia and osteopenia in the absence of significant classic gastrointestinal symptoms.[en.wikipedia.org]
  • […] syndrome · Postvagotomy syndrome · Diabetic gastroenteropathy · Endocrinopathies (hyper- and hypothyroidism, hyper- and hypoparathyroidism, Addison s disease, medullary carcinoma of the thyroid) · Glucagonoma, gastrinoma, VIPoma · Scleroderma · Pernicious anemia[163.178.103.176]
Failure to Thrive
  • […] to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid.[orpha.net]
  • […] to thrive Lab: enterokinase deficiency enteropeptidase deficiency Clinical features from OMIM: 226200 Human phenotypes related to Enterokinase Deficiency: 32 # Description HPO Frequency HPO Source Accession 1 failure to thrive 32 HP:0001508 2 diarrhea[malacards.org]
  • Mutations in this gene cause enterokinase deficiency, a malabsorption disorder characterized by diarrhea and failure to thrive. [provided by RefSeq, Jul 2008] TMPRSS15 (Transmembrane Protease, Serine 15) is a Protein Coding gene.[genecards.org]
  • Malabsorptive disorders include numerous clinical entities that may result in chronic diarrhea, abdominal distention, and failure to thrive.[pedsinreview.aappublications.org]
  • Cramping pain usually suggests obstructive intestinal segment e.g. in Crohn's disease, especially if it persists after defecation. [5] Weight loss can be significant despite increased oral intake of nutrients. [6] Growth retardation, failure to thrive[en.wikipedia.org]
Intestinal Disease
  • disease Trehalose Congenital trehalase deficiency Secondary trehalase deficiency in small intestinal disease Sucrose Congenital sucrase-isomaltase deficiency Secondary sucrase-isomaltase deficiency in small intestinal disease Therapy with alpha-glucosidase[163.178.103.176]
  • disease due to fat malabsorption Intestinal disease due to vitamin absorption anomaly Intestinal lymphangiectasia Intractable diarrhea of infancy Isolated biliary atresia Isolated polycystic liver disease Low phospholipid associated cholelithiasis Malakoplakia[se-atlas.de]
  • ) An intestinal disease. [ entero- G. pathos, suffering] enteropathy any disease of the intestine.[medical-dictionary.thefreedictionary.com]
Jaundice
  • […] deficiency or inactivation of pancreatic enzymes · Chronic pancreatitis · Surgical resection of the pancreas · Pancreatic cancer · Cystic fibrosis · Zollinger-Ellison syndrome Maldigestion due to impaired luminal bile acid concentration · Obstructive jaundice[163.178.103.176]
Hydrops Fetalis
  • Stay at the forefront of your field thanks to new and completely revised chapters covering topics such as: Principles and Practice l Immune and Non-immune Hydrops Fetalis l Amniotic Fluid Volume l Enhancing Safe Prescribing in the Neonatal Intensive Care[books.google.com]

Workup

Polyps
  • Review the latest developments in the field and get up-to-date clinical information on hot topics like polyps, capsule endoscopy, and pancreatic treatments.[books.google.com]

Treatment

  • Significant updates on bariatric surgery, Barrett's esophagus, endoscopic ultrasound, endosonography, treatment of liver disease, and much more keep you current on the latest advances.[books.google.com]

Etiology

  • Etiology The disease is based on a mutation of the CYP21 gene encoding p450c21 (21-hydroxylase).[en.medicine-guidebook.com]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]

Epidemiology

  • […] expansile osteolysis Osteopetrosis - hypogammaglobulinemia Synonym(s): - Congenital enterokinase deficiency Classification (Orphanet): - Rare gastroenterologic disease - Rare genetic disease Classification (ICD10): - Diseases of the digestive system - Epidemiological[csbg.cnb.csic.es]
  • For example, there is increasing epidemiologic evidence that more patients with coeliac disease present with anemia and osteopenia in the absence of significant classic gastrointestinal symptoms.[en.wikipedia.org]
Sex distribution
Age distribution

Pathophysiology

  • Objectives After completing this article, readers should be able to: Understand the physiology and pathophysiology of malabsorption. Describe the various manifestations of malabsorption.[pedsinreview.aappublications.org]
  • Causes [ edit ] Pathophysiology [ edit ] The main purpose of the gastrointestinal tract is to digest and absorb nutrients ( fat, carbohydrate, protein, micronutrients ( vitamins and trace minerals ), water, and electrolytes.[en.wikipedia.org]

Prevention

  • Special attention is given to the prevention and treatment of these diseases found in developing countries as well as the latest findings about new antimicrobial agents, gram-negative infections and their management, and recommendations for immunization[books.google.com]

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