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Intractable diarrhea

MedGen UID:
148164
Concept ID:
C0743178
Disease or Syndrome
Synonym: Diarrhea, intractable
 
HPO: HP:0002041

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIntractable diarrhea

Conditions with this feature

Complement component 5 deficiency
MedGen UID:
91003
Concept ID:
C0343047
Disease or Syndrome
A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections.
Congenital diarrhea 5 with tufting enteropathy
MedGen UID:
413031
Concept ID:
C2750737
Disease or Syndrome
Congenital tufting enteropathy (CTE) is a rare inherited intractable diarrhea of infancy characterized by villous atrophy and absence of inflammation, with intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum. CTE presents in the first few months of life with chronic watery diarrhea and failure to thrive, and most affected individuals require parenteral nutrition for normal growth and development (summary by Sivagnanam et al., 2008). Semiquantitative assessment of the epithelial surface in CTE patients revealed that 80 to 90% contained tufts, compared to only 16% in patients with celiac disease and less than 10% in normal jejunum (Reifen et al., 1994). For a discussion of genetic heterogeneity of diarrhea, see DIAR1 (214700).
Specific granule deficiency 2
MedGen UID:
1371952
Concept ID:
C4479548
Disease or Syndrome
Specific granule deficiency-2 (SGD2) is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include paucity of neutrophil granulocytes, absence of granule proteins in neutrophils, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and patients may die in early childhood unless they undergo hematopoietic stem cell transplantation. Most patients have additional findings, including delayed development, mild dysmorphic features, tooth abnormalities, and distal skeletal defects (Witzel et al., 2017). For a discussion of genetic heterogeneity of SGD, see SGD1 (245480).
Trichohepatoenteric syndrome 1
MedGen UID:
1644087
Concept ID:
C4551982
Disease or Syndrome
Trichohepatoenteric syndrome (THES), generally considered to be a neonatal enteropathy, is characterized by intractable diarrhea (seen in almost all affected children), woolly hair (seen in all), intrauterine growth restriction, facial dysmorphism, and short stature. Additional findings include poorly characterized immunodeficiency, recurrent infections, skin abnormalities, and liver disease. Mild intellectual disability (ID) is seen in about 50% of affected individuals. Less common findings include congenital heart defects and platelet anomalies. To date 52 affected individuals have been reported.
Immunodeficiency 82 with systemic inflammation
MedGen UID:
1781752
Concept ID:
C5543581
Disease or Syndrome
Immunodeficiency-82 with systemic inflammation (IMD82) is a complex autosomal dominant immunologic disorder characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease. One of the more common features is inflammation of the stomach and bowel. Most patients develop symptoms in infancy or early childhood; the severity is variable. There may be accompanying fever, elevated white blood cell count, decreased B cells, hypogammaglobulinemia, increased C-reactive protein (CRP; 123260), and a generalized hyperinflammatory state. Immunologic workup shows variable B- and T-cell abnormalities such as skewed subgroups. Patients have a propensity for the development of lymphoma, usually in adulthood. At the molecular level, the disorder results from a gain-of-function mutation that leads to constitutive and enhanced activation of the intracellular inflammatory signaling pathway. Treatment with SYK inhibitors rescued human cell abnormalities and resulted in clinical improvement in mice (Wang et al., 2021).
Junctional epidermolysis bullosa with pyloric atresia
MedGen UID:
1810975
Concept ID:
C5676875
Disease or Syndrome
Epidermolysis bullosa with pyloric atresia (EB-PA) is characterized by fragility of the skin and mucous membranes, manifested by blistering with little or no trauma; congenital pyloric atresia; and ureteral and renal anomalies (dysplastic/multicystic kidney, hydronephrosis/hydroureter, ureterocele, duplicated renal collecting system, absent bladder). The course of EB-PA is usually severe and often lethal in the neonatal period. Most affected children succumb as neonates; those who survive may have severe blistering with formation of granulation tissue on the skin around the mouth, nose, fingers, and toes, and internally around the trachea. However, some affected individuals have little or no blistering later in life. Additional features shared by EB-PA and the other major forms of EB include congenital localized absence of skin (aplasia cutis congenita) affecting the extremities and/or head, milia, nail dystrophy, scarring alopecia, hypotrichosis, contractures, and dilated cardiomyopathy.

Professional guidelines

PubMed

Hammer HF
Dig Dis 2021;39(6):615-621. Epub 2021 Feb 15 doi: 10.1159/000515219. PMID: 33588424
Casas-Alba D, Martínez-Monseny A, Pino-Ramírez RM, Alsina L, Castejón E, Navarro-Vilarrubí S, Pérez-Dueñas B, Serrano M, Palau F, García-Alix A
Hum Mutat 2018 Dec;39(12):1752-1763. Epub 2018 Sep 17 doi: 10.1002/humu.23638. PMID: 30176098
Kocoshis SA
Semin Pediatr Surg 2010 Feb;19(1):20-6. doi: 10.1053/j.sempedsurg.2009.11.003. PMID: 20123270

Recent clinical studies

Etiology

Jia C, Liu L, Zhu H, Shen W, Yang C
Cir Cir 2022;90(2):210-215. doi: 10.24875/CIRU.20001413. PMID: 35349561
Hammer HF
Dig Dis 2021;39(6):615-621. Epub 2021 Feb 15 doi: 10.1159/000515219. PMID: 33588424
Vély F, Barlogis V, Marinier E, Coste ME, Dubern B, Dugelay E, Lemale J, Martinez-Vinson C, Peretti N, Perry A, Bourgeois P, Badens C, Goulet O, Hugot JP, Farnarier C, Fabre A
Front Immunol 2018;9:1036. Epub 2018 May 11 doi: 10.3389/fimmu.2018.01036. PMID: 29868001Free PMC Article
Umetsu SE, Brown I, Langner C, Lauwers GY
Virchows Arch 2018 Jan;472(1):55-66. Epub 2017 Oct 11 doi: 10.1007/s00428-017-2243-7. PMID: 29022145
Perry A, Bensallah H, Martinez-Vinson C, Berrebi D, Arbeille B, Salomon J, Goulet O, Marinier E, Drunat S, Samson-Bouma ME, Gérard B, Hugot JP
J Pediatr Gastroenterol Nutr 2014 Dec;59(6):779-85. doi: 10.1097/MPG.0000000000000526. PMID: 25111220

Diagnosis

Hammer HF
Dig Dis 2021;39(6):615-621. Epub 2021 Feb 15 doi: 10.1159/000515219. PMID: 33588424
Umetsu SE, Brown I, Langner C, Lauwers GY
Virchows Arch 2018 Jan;472(1):55-66. Epub 2017 Oct 11 doi: 10.1007/s00428-017-2243-7. PMID: 29022145
Fabre A, Martinez-Vinson C, Goulet O, Badens C
Orphanet J Rare Dis 2013 Jan 9;8:5. doi: 10.1186/1750-1172-8-5. PMID: 23302111Free PMC Article
Goulet O, Vinson C, Roquelaure B, Brousse N, Bodemer C, Cézard JP
Orphanet J Rare Dis 2008 Feb 28;3:6. doi: 10.1186/1750-1172-3-6. PMID: 18304370Free PMC Article
Vanderhoof JA
Pediatr Rev 1998 Dec;19(12):418-22. doi: 10.1542/pir.19-12-418. PMID: 9849071

Therapy

Kitajima H, Hirano S
Pediatr Int 2017 Mar;59(3):328-333. Epub 2016 Nov 17 doi: 10.1111/ped.13123. PMID: 27538261
Gentile NM, Murray JA, Pardi DS
Curr Gastroenterol Rep 2012 Oct;14(5):380-5. doi: 10.1007/s11894-012-0276-2. PMID: 22810979Free PMC Article
De Marco G, Barabino A, Gambarara M, Diamanti A, Martelossi S, Guarino A
J Pediatr Gastroenterol Nutr 2006 Jul;43 Suppl 1:S61-7. doi: 10.1097/01.mpg.0000226392.09978.6d. PMID: 16819404
Russo PA, Brochu P, Seidman EG, Roy CC
Pediatr Dev Pathol 1999 Jan-Feb;2(1):65-71. doi: 10.1007/s100249900092. PMID: 9841709
Brady MS, Rickard KA, Fitzgerald JF, Lemons JA
J Am Diet Assoc 1986 Feb;86(2):191-200. PMID: 3511129

Prognosis

Jia C, Liu L, Zhu H, Shen W, Yang C
Cir Cir 2022;90(2):210-215. doi: 10.24875/CIRU.20001413. PMID: 35349561
Casas-Alba D, Martínez-Monseny A, Pino-Ramírez RM, Alsina L, Castejón E, Navarro-Vilarrubí S, Pérez-Dueñas B, Serrano M, Palau F, García-Alix A
Hum Mutat 2018 Dec;39(12):1752-1763. Epub 2018 Sep 17 doi: 10.1002/humu.23638. PMID: 30176098
Thompson JS
Transplant Proc 2016 Mar;48(2):453-6. doi: 10.1016/j.transproceed.2015.09.072. PMID: 27109977
Perry A, Bensallah H, Martinez-Vinson C, Berrebi D, Arbeille B, Salomon J, Goulet O, Marinier E, Drunat S, Samson-Bouma ME, Gérard B, Hugot JP
J Pediatr Gastroenterol Nutr 2014 Dec;59(6):779-85. doi: 10.1097/MPG.0000000000000526. PMID: 25111220
Goulet O, Vinson C, Roquelaure B, Brousse N, Bodemer C, Cézard JP
Orphanet J Rare Dis 2008 Feb 28;3:6. doi: 10.1186/1750-1172-3-6. PMID: 18304370Free PMC Article

Clinical prediction guides

Luzon JA, Thorsen Y, Nogueira LP, Andersen SN, Edwin B, Haugen HJ, Ignjatovic D, Stimec BV
Surg Endosc 2022 Oct;36(10):7607-7618. Epub 2022 Apr 5 doi: 10.1007/s00464-022-09200-2. PMID: 35380284Free PMC Article
Klee KMC, Janecke AR, Civan HA, Rosipal Š, Heinz-Erian P, Huber LA, Müller T, Vogel GF
Hum Genet 2020 Oct;139(10):1247-1259. Epub 2020 Apr 18 doi: 10.1007/s00439-020-02168-w. PMID: 32306098Free PMC Article
Umetsu SE, Brown I, Langner C, Lauwers GY
Virchows Arch 2018 Jan;472(1):55-66. Epub 2017 Oct 11 doi: 10.1007/s00428-017-2243-7. PMID: 29022145
Thompson JS
Transplant Proc 2016 Mar;48(2):453-6. doi: 10.1016/j.transproceed.2015.09.072. PMID: 27109977
Fabre A, Martinez-Vinson C, Goulet O, Badens C
Orphanet J Rare Dis 2013 Jan 9;8:5. doi: 10.1186/1750-1172-8-5. PMID: 23302111Free PMC Article

Recent systematic reviews

Manini A, Querzola G, Lovati C, Pantoni L
Neurol Sci 2022 Feb;43(2):907-926. Epub 2022 Jan 3 doi: 10.1007/s10072-021-05844-5. PMID: 34981284Free PMC Article
Hammer HF
Dig Dis 2021;39(6):615-621. Epub 2021 Feb 15 doi: 10.1159/000515219. PMID: 33588424
Ikuse T, Kudo T, Arai K, Fujii Y, Ida S, Ishii T, Mushiake S, Nagata K, Tamai H, Toki A, Tomomasa T, Ushijima K, Yanagi T, Yonekura T, Taguchi T, Shimizu T
Pediatr Int 2018 Aug;60(8):719-726. Epub 2018 Jul 10 doi: 10.1111/ped.13601. PMID: 29804317

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