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Intermittent diarrhea

MedGen UID:
66782
Concept ID:
C0239181
Sign or Symptom
Synonyms: Diarrhea, episodic; Episodic diarrhea
 
HPO: HP:0002254

Definition

Repeated episodes of diarrhea separated by periods without diarrhea. [from HPO]

Term Hierarchy

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

Conditions with this feature

Secretory piece deficiency
MedGen UID:
140769
Concept ID:
C0398709
Disease or Syndrome
Deficiency of secretory IgA (polymers of 2-4 IgA monomers are linked by two additional chains) and is the primary antibody response at the mucosal level, where it forms immune complexes with pathogens and allergens.
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
MedGen UID:
415885
Concept ID:
C2919796
Disease or Syndrome
Glycogen storage disease type I (GSDI) is characterized by accumulation of glycogen and fat in the liver and kidneys resulting in hepatomegaly and nephromegaly. Severely affected infants present in the neonatal period with severe hypoglycemia due to fasting intolerance. More commonly, untreated infants present at age three to four months with hepatomegaly, severe hypoglycemia with or without seizures, lactic acidosis, hyperuricemia, and hypertriglyceridemia. Affected children typically have doll-like faces with full cheeks, relatively thin extremities, short stature, and a protuberant abdomen. Xanthoma and diarrhea may be present. Impaired platelet function and development of reduced or dysfunctional von Willebrand factor can lead to a bleeding tendency with frequent epistaxis and menorrhagia in females. Individuals with untreated GSDIb are more likely to develop impaired neutrophil and monocyte function as well as chronic neutropenia resulting in recurrent bacterial infections, gingivitis, periodontitis, and genital and intestinal ulcers. Long-term complications of untreated GSDI include short stature, osteoporosis, delayed puberty, renal disease (including proximal and distal renal tubular acidosis, renal stones, and renal failure), gout, systemic hypertension, pulmonary hypertension, hepatic adenomas with potential for malignancy, pancreatitis, and polycystic ovaries. Seizures and cognitive impairment may occur in individuals with prolonged periods of hypoglycemia. Normal growth and puberty are expected in treated children. Most affected individuals live into adulthood.
DOCK2 deficiency
MedGen UID:
901370
Concept ID:
C4225328
Disease or Syndrome
Immunodeficiency-40 is an autosomal recessive primary form of combined immunodeficiency mainly affecting T-cell number and function, with other more variable defects in B-cell and NK-cell function. Patients have onset of severe invasive bacterial and viral infections in early childhood and may die without bone marrow transplantation (summary by Dobbs et al., 2015).
Mitochondrial DNA depletion syndrome 1
MedGen UID:
1631838
Concept ID:
C4551995
Disease or Syndrome
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is characterized by progressive gastrointestinal dysmotility (manifesting as early satiety, nausea, dysphagia, gastroesophageal reflux, postprandial emesis, episodic abdominal pain and/or distention, and diarrhea); cachexia; ptosis/ophthalmoplegia or ophthalmoparesis; leukoencephalopathy; and demyelinating peripheral neuropathy (manifesting as paresthesias (tingling, numbness, and pain) and symmetric and distal weakness more prominently affecting the lower extremities). The order in which manifestations appear is unpredictable. Onset is usually between the first and fifth decades; in about 60% of individuals, symptoms begin before age 20 years.
Intellectual disability, autosomal dominant 57
MedGen UID:
1648280
Concept ID:
C4748003
Mental or Behavioral Dysfunction
MRD57 is an autosomal dominant neurodevelopmental disorder with a highly variable phenotype. Most affected individuals have delayed psychomotor development apparent in infancy or early childhood, language delay, and behavioral abnormalities. Additional features may include hypotonia, feeding problems, gastrointestinal issues, and dysmorphic facial features (summary by Reijnders et al., 2018).
Immunodeficiency 91 and hyperinflammation
MedGen UID:
1794283
Concept ID:
C5562073
Disease or Syndrome
Immunodeficiency-91 and hyperinflammation (IMD91) is an autosomal recessive complex immunologic disorder characterized by both immunodeficiency and recurrent infections, often to viruses or mycobacteria, as well as by hyperinflammation with systemic involvement. Affected individuals present in infancy with variable features, including fever, infection, thrombocytopenia, renal or hepatic dysfunction, recurrent infections, or seizures. Most patients eventually develop hepatic or renal failure, compromised neurologic function, lymphadenopathy or hepatosplenomegaly, and multiorgan failure resulting in death. More variable features may include intermittent monocytosis, features of hemophagocytic lymphohistiocytosis (HLH), and serologic evidence of hyperinflammation. The disorder is thought to result from dysregulation of the interferon response to viral stimulation in the innate immune system (summary by Le Voyer et al., 2021; Vavassori et al., 2021).
Neurodevelopmental disorder with epilepsy and brain atrophy
MedGen UID:
1823957
Concept ID:
C5774184
Disease or Syndrome
Neurodevelopmental disorder with epilepsy and brain atrophy (NEDEBA) is an autosomal recessive disorder characterized by early-onset progressive myoclonus epilepsy with ataxia (summary by Bott et al., 2021).
Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities
MedGen UID:
1840955
Concept ID:
C5830319
Mental or Behavioral Dysfunction
Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities (NEDSMB) is an autosomal recessive disorder characterized by global developmental delay and severely impaired intellectual development with aggressive behavior. Mild dysmorphic features and hypodontia are also present (Faqeih et al., 2023).
Immunodeficiency 115 with autoinflammation
MedGen UID:
1847791
Concept ID:
C5882724
Disease or Syndrome
Immunodeficiency-115 with autoinflammation (IMD115) is an autosomal recessive disorder characterized by the onset of symptoms of immune dysregulation in early infancy. Affected individuals have immunodeficiency with recurrent bacterial, viral, and fungal infections, as well as autoinflammatory features, including arthritis and dermatitis. Some patients may have more systemic involvement, such as myopathy, gastrointestinal abnormalities, and anemia. Laboratory studies show variable B-cell and T-cell defects, sometimes with defective antibody responses and hypogammaglobulinemia (Boisson et al., 2015; Oda et al., 2019).

Professional guidelines

PubMed

Al-Mohammed HI
Parasitol Res 2011 Jun;108(6):1375-81. Epub 2010 Sep 14 doi: 10.1007/s00436-010-2033-5. PMID: 20838811
Helmy MM, Abdel-Fattah HS, Rashed L
J Parasitol 2009 Aug;95(4):1000-4. doi: 10.1645/GE-1670.1. PMID: 19254068
Pape JW, Verdier RI, Boncy M, Boncy J, Johnson WD Jr
Ann Intern Med 1994 Nov 1;121(9):654-7. doi: 10.7326/0003-4819-121-9-199411010-00004. PMID: 7944073

Recent clinical studies

Etiology

Nadelman DA, Bradt AR, Qvarnstrom Y, Goldsmith CS, Zaki SR, Wang F, Smith EH, Fullen DR
J Cutan Pathol 2020 Jul;47(7):659-663. Epub 2020 Mar 20 doi: 10.1111/cup.13674. PMID: 32125011Free PMC Article
Espeschit IF, Schwarz DGG, Faria ACS, Souza MCC, Paolicchi FA, Juste RA, Carvalho IA, Moreira MAS
Trop Anim Health Prod 2017 Dec;49(8):1557-1576. Epub 2017 Sep 7 doi: 10.1007/s11250-017-1385-6. PMID: 28884331
Giri PP, Raushan R, Ghosh A, Pal P
Indian Pediatr 2012 Jan;49(1):62-4. PMID: 22318104
Mehta A, Patkar N, Duhan S, Srinivas, Nema S
Indian J Gastroenterol 2005 Jan-Feb;24(1):31. PMID: 15778529
Stabel JR
J Dairy Sci 1998 Jan;81(1):283-8. doi: 10.3168/jds.S0022-0302(98)75577-8. PMID: 9493105

Diagnosis

Leung AKC, Leung AAM, Wong AHC, Hon KL
Recent Pat Inflamm Allergy Drug Discov 2020;14(2):133-145. doi: 10.2174/1872213X14666200705235757. PMID: 32628606
Biagi F, Maimaris S, Vecchiato CG, Costetti M, Biagi G
Minerva Gastroenterol Dietol 2020 Jun;66(2):151-156. Epub 2019 Dec 9 doi: 10.23736/S1121-421X.19.02648-5. PMID: 31820885
Giri PP, Raushan R, Ghosh A, Pal P
Indian Pediatr 2012 Jan;49(1):62-4. PMID: 22318104
Mehta A, Patkar N, Duhan S, Srinivas, Nema S
Indian J Gastroenterol 2005 Jan-Feb;24(1):31. PMID: 15778529
Wolfe MS
Clin Microbiol Rev 1992 Jan;5(1):93-100. doi: 10.1128/CMR.5.1.93. PMID: 1735095Free PMC Article

Therapy

Kwasnicki A, Calandriello A, Nikas D
Childs Nerv Syst 2022 Apr;38(4):827-830. Epub 2021 Jul 6 doi: 10.1007/s00381-021-05252-2. PMID: 34228175
Leung AKC, Leung AAM, Wong AHC, Hon KL
Recent Pat Inflamm Allergy Drug Discov 2020;14(2):133-145. doi: 10.2174/1872213X14666200705235757. PMID: 32628606
Nadelman DA, Bradt AR, Qvarnstrom Y, Goldsmith CS, Zaki SR, Wang F, Smith EH, Fullen DR
J Cutan Pathol 2020 Jul;47(7):659-663. Epub 2020 Mar 20 doi: 10.1111/cup.13674. PMID: 32125011Free PMC Article
Mehta A, Patkar N, Duhan S, Srinivas, Nema S
Indian J Gastroenterol 2005 Jan-Feb;24(1):31. PMID: 15778529
Stabel JR
J Dairy Sci 1998 Jan;81(1):283-8. doi: 10.3168/jds.S0022-0302(98)75577-8. PMID: 9493105

Prognosis

Xu L, Chen X, Yang X, Jiang H, Wang J, Chen S, Xu J
Front Cell Infect Microbiol 2023;13:1115268. Epub 2023 Feb 2 doi: 10.3389/fcimb.2023.1115268. PMID: 36816584Free PMC Article
Giri PP, Raushan R, Ghosh A, Pal P
Indian Pediatr 2012 Jan;49(1):62-4. PMID: 22318104
Mehta A, Patkar N, Duhan S, Srinivas, Nema S
Indian J Gastroenterol 2005 Jan-Feb;24(1):31. PMID: 15778529
Jimenez SG, Heine RG, Ward PB, Robins-Browne RM
Pediatr Infect Dis J 1999 Nov;18(11):988-92. doi: 10.1097/00006454-199911000-00011. PMID: 10571436
Lugo-Vicente HL
JSLS 1997 Jan-Mar;1(1):61-4. PMID: 9876649Free PMC Article

Clinical prediction guides

Marcondes MB, Susuki CMP, Hokama NK, Hokama POM, Oliver FA, Chaib PS, Qi X, Romeiro FG
BMC Gastroenterol 2022 Sep 4;22(1):406. doi: 10.1186/s12876-022-02477-6. PMID: 36058908Free PMC Article
Leung AKC, Leung AAM, Wong AHC, Hon KL
Recent Pat Inflamm Allergy Drug Discov 2020;14(2):133-145. doi: 10.2174/1872213X14666200705235757. PMID: 32628606
Ciampo IRLD, Sawamura R, Ciampo LAD, Fernandes MIM
Rev Paul Pediatr 2018 Apr-Jun;36(2):238-241. Epub 2018 Jan 15 doi: 10.1590/1984-0462/;2018;36;2;00010. PMID: 29412435Free PMC Article
Rosell-Camps A, Zibetti S, Pérez-Esteban G, Vila-Vidal M, Ferrés-Ramis L, García-Teresa-García E
Rev Esp Enferm Dig 2013 Apr;105(4):201-6. doi: 10.4321/s1130-01082013000400004. PMID: 23859448
San Joaquin VH, Pickett DA
Pediatr Infect Dis J 1988 Jan;7(1):53-7. doi: 10.1097/00006454-198801000-00013. PMID: 3340460

Recent systematic reviews

Espeschit IF, Schwarz DGG, Faria ACS, Souza MCC, Paolicchi FA, Juste RA, Carvalho IA, Moreira MAS
Trop Anim Health Prod 2017 Dec;49(8):1557-1576. Epub 2017 Sep 7 doi: 10.1007/s11250-017-1385-6. PMID: 28884331

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