Intestinal diseases Close Hirschsprung's disease Guideline for the management of rectosigmoid Hirschsprung's disease. This guideline has also been translated into Ukrainian ERNICA summary of the guideline for clinicians has been produced in three languages. A version tailored specifically for patients and their families is currently in development. Updated ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease 2025 English Finnish Swedish Chat Ukrainian Chat Total Colonic Aganglionosis ERNICA Clinical Consensus Statements on Total Colonic and Intestinal Aganglionosis Chat Necrotising Enterocolitis ERNICA Guideline on Surgical Aspects of Necrotizing Enterocolitis in Premature Neonates Published summary can be read here . Chat

ERNICA covers the following diseases within the intestinal failure working group.   Intestinal Failure ERNICA covers the following diseases within the intestinal failure working group. Intestinal failure Intestinal failure occurs when the intestines cannot digest food and absorb the fluids, electolytes and nutrients that are essential to life and normal development. Read More Read Less Intractable diarrhea of infancy Is a heterogeneous syndrome that includes several diseases with different etiologies. Read Less Read More Chronic intestinal pseudo-obstruction Is a rare gastointestinal motility disorder Read Less Read More Microvillus inclusion disease is a very rare and severe intestinal disease characterized by intractable neonatal secretory diarrhea persisting at bowel rest and specific histological features of the intestinal epithelium. Read More Read Less Short bowel syndrome is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length. Congenital enteropathies Are a group of rare inherited diseases with a typical onset early in life. They involve defects in enterocyte structure or differentiation. Epithelial dysplasia Is a premalignant condition characterized clinically by an alteration in the oral epithelium that may cause the oral mucosa to turn red, white, or some other color variation. Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy Intestinal disease due to fat malbsorption Intractable diarrhea of infancy Based on recent advances in the genetics of autoimmune enteropathy as well as the pathophysiology and clinical presentation, autoimmune enteropathy can be classified into three different types: the classical form of autoimmune enteropathy, identical to the so-called immune dysregulation-polyendocrinopathy-enteropathy-X-linked (IPEX) syndrome (autoimmune enteropathy type 1 ); autoimmune enteropathy type 2 (without extra-intestinal manifestations) and autoimmune enteropathy type 3 (in girls). Microvillus inclusion disease (MVID) and Intestinal epithelial dysplasia (IED), also known as tufting enteropathy, are congenital enteropathies presenting with villous atrophy and are thought to be related to abnormal enterocytes. Another form of IDI that should be considered in a different way from the two other groups is so-called 'phenotypic diarrhoea'' or 'syndromatic diarrhea''. This form of IDI presents with severe early onset diarrhea resisting bowel rest, non-specific villous atrophy and very characteristic extra-digestive (facial and hair dysmorphy) manifestations. DIAGNOSTIC METHODS PROGNOSIS Clinically, IDI may be easy to diagnose on the basis of the symptoms onset, clinical presentation and associated disorders. Histopathological analysis confirms the diagnosis. Infants with IDI remain dependent on parenteralnutrition for months, years and, in most cases, forever because of the permanent intestinal failure associated with the high rate of digestive loss. As long-term parenteral nutrition is associated with complications and/or poor quality of life, alternative treatments, such as intestinal transplantation, have to be considered. Chronic intestinal pseudo-obstruction Patients commonly present with severe chronic "obstructive" symptoms: abdominal pain, distension/fullness, nausea/vomiting, diarrhea and/or intractable constipation, malabsorption of nutrients leading to weight loss and/or failure to thrive. Laboratory abnormalities usually reflect the degree of malabsorption and malnutrition. The radiological findings commonly include paralytic ileus or signs of apparent clinical obstruction with dilated loops of bowel. The regions of the gut affected may be isolated (small bowel involvement is the most typical) or diffuse, and sometimes other visceral musculature, such as the urinary bladder, is involved. DIAGNOSTIC METHODS MANAGEMENT & TREATMENT PROGNOSIS The clinical diagnosis should be confirmed by a combination of gastrointestinal manometric studies, transit time measurements, radiological findings (dilated bowel with air-fluid levels), and histological examination of a full-thickness biopsy of the affected intestine. If CIPO is suspected, mechanical obstruction must be carefully excluded by radiologic and endoscopic examinations. Management requires a multidisciplinary approach (pediatric gastroenterologist, pain management specialist, psychologist) and depends on the cause of the disorder, the extent and location of intestine involved, and the severity of symptoms. General measures include dietary changes (nutritional support to prevent malnutrition by oral and/or enteral nutrition), prokinetic agents (metoclopramide, cisapride), treatment of complications such as bacterial overgrowth and severe pain, and specific surgical procedures. The potential role of operative treatment of CIPO is controversial; unnecessary laparotomies should be strictly avoided as they may lead to adhesions and markedly complicate the clinical course. Surgery in CIPO is indicated for vascular access, intestinal biopsy, and palliation surgery, including total enterectomy, venting enterostomy, duodenojejunostomy, and duodenoplasty. Recently, intestinal transplantation has become a therapeutic option for children with severe refractory disease who are dependent on total parenteral nutrition (TNP), and in whom TPN management is failing. CIPO is a severe, often unrecognized disease characterized by disabling and potentially life-threatening complications over time. Treatment and long-term outcome are often unsatisfactory. Microvillus inclusion disease Two clinical forms of MVID have been described: an early-onset form , developing within hours or days of birth, and a late-onset form , occurring in the first months of life. In both, intractable, watery diarrhea is profuse and leads to severe metabolic acidosis, dehydration, malabsorption and failure to thrive. Total parenteral nutrition is necessary, however, in some later-onset cases, partial oral absorption has been described. The intestinal insufficiency is progressively life-threatening in the absence of rapid, appropriate hydroelectrolytic and nutritional compensation. Developmental delays may be present and rare associated anomalies (e.g. inguinal hernia, renal dysplasia) have been reported. Long-term parenteral nutrition may be complicated with specific liver cholestasis. Atypical forms of MVID, without detectable microvillus inclusions and less severe course, have been described. DIAGNOSTIC METHODS MANAGEMENT & TREATMENT PROGNOSIS The diagnosis is suspected based on clinical manifestations and is confirmed by histological analysis of small bowel biopsies showing villous atrophy and abnormal periodic acid-Schiff stain (PAS)-positive inclusion material in intestinal epithelium, without crypt hyperplasia. Electronic microscopy reveals microvillous atrophy and in most cases, microvillous inclusion vesicles in the cytoplasm of enterocytes. Molecular genetic testing has become essential to confirm the diagnosis. To date, there is no curative therapy for MVID. Treatment involves total parenteral nutrition, intestinal transplantation (when long-term parenteral nutrition is no longer possible) and, when required, associated liver transplantation. Due to the severity and precocity of the symptoms, as well as the long-term parenteral nutrition's complications, prognosis for MVID is generally poor. Causes of death include severe dehydration and metabolic imbalance, malnutrition, and sepsis. Intestinal failure Some people are born with or develop irreversible intestinal failure. Intestinal failure occurs when the intestines cannot digest food and absorb the fluids, electrolytes and nutrients that are essential to life and normal development. Total parenteral nutrition (TPN) is then indicated, which provides liquid nutrition through a catheter or needle inserted into a vein in the arm, groin, neck or chest. The most common cause of intestinal failure is short-bowel syndrome where at least half or more of the small intestine has been removed. Short-bowel syndrome is typically a postsurgical condition for treatment of conditions such as trauma, necrotizing enterocolitis or midgut volvulus. Other causes are congenital malformations such as small-bowel atresia, gastroschisis, and aganglionosis. Intestinal failure may also be caused by functional disorders such as crohn's disease, chronic idiopathic intestinal pseudo-obstruction syndrome or absorptive impairment (e.g. intestinal pseudo-obstruction, microvillus inclusion disease). The conditions leading to intestinal failure are age-dependent. Traveling abroad with intestinal failure Reliance on parenteral nutrition can pose challenges for traveling abroad. Therefore, ERNICA developed a map tool which may help patients and families to easily identify specialist centers across Europe that are able to administer parenteral nutrition and that meet a particular criterion. Access the map tool below! Search for center

< Back Daniel Rossi Project Manager ERNICA/EPSA registry d.rossi@erasmusmc.nl / d.rossi@dica.nl

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