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Sepsis

MedGen UID:
452029
Concept ID:
CN117696
Finding
 
HPO: HP:0100806

Definition

Systemic inflammatory response to infection. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGSepsis

Conditions with this feature

Felty's syndrome
MedGen UID:
4674
Concept ID:
C0015773
Disease or Syndrome
A rare complication of rheumatoid arthritis with autoimmune NEUTROPENIA; and SPLENOMEGALY.
Menetrier disease
MedGen UID:
4844
Concept ID:
C0017155
Disease or Syndrome
A condition marked by inflammation and ulcers (breaks on the skin or on the surface of an organ) of the mucosa (inner lining) of the stomach and by overgrowth of the cells that make up the mucosa. Symptoms include vomiting, diarrhea, and weight loss. Patients with giant hypertrophic gastritis may be at a higher risk of stomach cancer.
Menkes kinky-hair syndrome
MedGen UID:
44030
Concept ID:
C0022716
Disease or Syndrome
Menkes disease, occipital horn syndrome (OHS), and ATP7A-related distal motor neuropathy (DMN) are disorders of copper transport caused by mutations in the copper-transporting ATPase gene (ATP7A). Infants with classic Menkes disease appear healthy until age two to three months, when loss of developmental milestones, hypotonia, seizures, and failure to thrive occur. The diagnosis is usually suspected when infants exhibit typical neurologic changes and concomitant characteristic changes of the hair (short, sparse, coarse, twisted, and often lightly pigmented). Temperature instability and hypoglycemia may be present in the neonatal period. Death usually occurs by age three years. Occipital horn syndrome is characterized by "occipital horns," distinctive wedge-shaped calcifications at the sites of attachment of the trapezius muscle and the sternocleidomastoid muscle to the occipital bone. Occipital horns may be clinically palpable or observed on skull radiographs. Individuals with OHS also have lax skin and joints, bladder diverticula, inguinal hernias, and vascular tortuosity. Intellect is normal or slightly reduced. ATP7A-related distal motor neuropathy, an adult-onset disorder resembling Charcot-Marie-Tooth disease, shares none of the clinical or biochemical abnormalities characteristic of Menkes disease or OHS.
Cyclical neutropenia
MedGen UID:
65121
Concept ID:
C0221023
Disease or Syndrome
ELANE-related neutropenia includes congenital neutropenia and cyclic neutropenia, both of which are primary hematologic disorders characterized by recurrent fever, skin and oropharyngeal inflammation (i.e., mouth ulcers, gingivitis, sinusitis, and pharyngitis), and cervical adenopathy. Infectious complications are generally more severe in congenital neutropenia than in cyclic neutropenia. In congenital neutropenia, omphalitis immediately after birth may be the first sign; in untreated children diarrhea, pneumonia, and deep abscesses in the liver, lungs, and subcutaneous tissues are common in the first year of life. After 15 years with granulocyte colony stimulating factor treatment, the risk of developing myelodysplasia (MDS) or acute myelogenous leukemia AML is approximately 15%-25%. Cyclic neutropenia is usually diagnosed within the first year of life based on approximately three-week intervals of fever and oral ulcerations and regular oscillations of blood cell counts. Cellulitis, especially perianal cellulitis, is common during neutropenic periods. Between neutropenic periods, affected individuals are generally healthy. Symptoms improve in adulthood. Cyclic neutropenia is not associated with risk of malignancy or conversion to leukemia.
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
MedGen UID:
82777
Concept ID:
C0268151
Disease or Syndrome
The term galactosemia refers to disorders of galactose metabolism that include classic galactosemia, clinical variant galactosemia, and biochemical variant galactosemia. This GeneReview focuses on: Classic galactosemia, which can result in life-threatening complications including feeding problems, failure to thrive, hepatocellular damage, bleeding, and E. coli sepsis in untreated infants. If a lactose-restricted diet is provided during the first ten days of life, the neonatal signs usually quickly resolve and the complications of liver failure, sepsis, and neonatal death are prevented; however, despite adequate treatment from an early age, children with classic galactosemia remain at increased risk for developmental delays, speech problems (termed childhood apraxia of speech and dysarthria), and abnormalities of motor function. Almost all females with classic galactosemia manifest premature ovarian insufficiency (POI). Clinical variant galactosemia, which can result in life-threatening complications including feeding problems, failure to thrive, hepatocellular damage including cirrhosis and bleeding in untreated infants. This is exemplified by the disease that occurs in African Americans and native Africans in South Africa. Persons with clinical variant galactosemia may be missed with newborn screening (NBS) as the hypergalactosemia is not as marked as in classic galactosemia and breath testing is normal. If a lactose-restricted diet is provided during the first ten days of life, the severe acute neonatal complications are usually prevented. African Americans with clinical variant galactosemia and adequate early treatment do not appear to be at risk for long-term complications including POI.
Reticular dysgenesis
MedGen UID:
124417
Concept ID:
C0272167
Disease or Syndrome
A rare severe combined immunodeficiency disorder characterized by congenital agranulocytosis, lymphoid tissue and thymic tissue hypoplasia, and lymphopenia. Both cellular and humoral immunities are absent.
Megacystis, microcolon, hypoperistalsis syndrome
MedGen UID:
296125
Concept ID:
C1608393
Congenital Abnormality
A rare syndrome characterized by the presence of an enlarged and weak bladder (megacystis), a very small large intestine (microcolon), and weak small intestine that does not function properly (hypoperistalsis). It is caused by a disorder of the smooth muscles of the abdomen and gastrointestinal tract.
Histiocytic medullary reticulosis
MedGen UID:
321464
Concept ID:
C1801959
Neoplastic Process
An autosomal recessive combined immunodeficiency syndrome caused by mutations in the RAG-1 and RAG-2 genes. It is characterized by the presence of alopecia, erythroderma, desquamation, lymphadenopathy, and chronic diarrhea.
Visceral myopathy
MedGen UID:
331900
Concept ID:
C1835084
Disease or Syndrome
Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014). Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (277320). Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (100100) and Barrett esophagus (Mungan syndrome; 611376). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see 609629).
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity
MedGen UID:
372161
Concept ID:
C1835931
Disease or Syndrome
Susceptibility to severe cutaneous adverse reaction
MedGen UID:
326760
Concept ID:
C1840548
Finding
Desmoid disease, hereditary
MedGen UID:
338210
Concept ID:
C1851124
Disease or Syndrome
Hereditary desmoid disease usually presents as an extraintestinal manifestation of familial adenomatous polyposis (FAP; 175100), also known as Gardner syndrome, which is an autosomal dominant disorder caused by germline mutation in the APC gene. The desmoid tumors are usually intraabdominal and, although benign, can be locally aggressive and result in significant morbidity. Desmoid tumors can also arise sporadically (Couture et al., 2000).
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
MedGen UID:
344424
Concept ID:
C1855114
Disease or Syndrome
Isolated methylmalonic acidemia/aciduria is caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut(0) enzymatic subtype or mut(–) enzymatic subtype, respectively), a defect in the transport or synthesis of its cofactor, adenosyl-cobalamin (cblA, cblB, or cblD variant 2 type), or deficiency of the enzyme methylmalonyl-CoA epimerase. Onset of the manifestations of isolated methylmalonic acidemia/aciduria ranges from the neonatal period to adulthood. All phenotypes demonstrate periods of relative health and intermittent metabolic decompensation, usually associated with intercurrent infections and stress. In the neonatal period the disease can present with lethargy, vomiting, hypotonia, hypothermia, respiratory distress, severe ketoacidosis, hyperammonemia, neutropenia, and thrombocytopenia and can result in death. In the infantile/non-B12-responsive phenotype, the most common form, infants are normal at birth but develop lethargy, vomiting, dehydration, hepatomegaly, hypotonia, and encephalopathy. An intermediate B12-responsive phenotype can occasionally present in neonates, but usually presents in the first months or years of life; affected children exhibit anorexia, failure to thrive, hypotonia, and developmental delay, and sometimes have protein aversion and/or vomiting and lethargy after protein intake. Atypical and "benign"/adult methylmalonic acidemia are associated with increased, albeit mild, urinary excretion of methylmalonate; however, it is uncertain if some of these individuals will develop symptoms. Major secondary complications of methylmalonic acidemia include developmental delay (variable); tubulointerstitial nephritis with progressive renal failure; “metabolic stroke” (acute and chronic basal ganglia involvement); disabling movement disorder with choreoathetosis, dystonia, and para/quadriparesis; pancreatitis; growth failure; functional immune impairment; and optic nerve atrophy.
Severe congenital neutropenia 4, autosomal recessive
MedGen UID:
436454
Concept ID:
C2675526
Disease or Syndrome
Severe congenital neutropenia is a condition that causes affected individuals to be prone to recurrent infections. People with this condition have a shortage (deficiency) of neutrophils, a type of white blood cell that plays a role in inflammation and in fighting infection. The deficiency of neutrophils, called neutropenia, is apparent at birth or soon afterward. It leads to recurrent infections beginning in infancy, including infections of the sinuses, lungs, and liver. Affected individuals can also develop fevers and inflammation of the gums (gingivitis) and skin. Approximately 40 percent of affected people have decreased bone density (osteopenia) and may develop osteoporosis, a condition that makes bones progressively more brittle and prone to fracture. In people with severe congenital neutropenia, these bone disorders can begin at any time from infancy through adulthood. Approximately 20 percent of people with severe congenital neutropenia develop cancer of the blood-forming tissue (leukemia) or a disease of the blood and bone marrow (myelodysplastic syndrome) during adolescence. Some people with severe congenital neutropenia have additional health problems such as seizures, developmental delay, or heart and genital abnormalities.
Epidermolysis bullosa simplex with pyloric atresia
MedGen UID:
436922
Concept ID:
C2677349
Disease or Syndrome
EBS-PA is an autosomal recessive genodermatosis characterized by severe skin blistering at birth and congenital pyloric atresia. Death usually occurs in infancy. In reports of 2 consensus meetings for EB, Fine et al. (2000, 2008) considered EBS-PA to be a 'basal' form of simplex EB because the electron microscopy shows that skin cleavage occurs in the lower basal level of the keratinocyte, just above the hemidesmosome. There is often decreased integration of keratin filaments with hemidesmosomes.

Recent clinical studies

Etiology

Wang C, Gui Q, Zhang K
APMIS 2015 May;123(5):433-8. doi: 10.1111/apm.12364. PMID: 25912130
Cross G, Bilgrami I, Eastwood G, Johnson P, Howden BP, Bellomo R, Jones D
Anaesth Intensive Care 2015 Mar;43(2):193-8. PMID: 25735684
Janz DR, Bastarache JA, Rice TW, Bernard GR, Warren MA, Wickersham N, Sills G, Oates JA, Roberts LJ 2nd, Ware LB; Acetaminophen for the Reduction of Oxidative Injury in Severe Sepsis Study Group
Crit Care Med 2015 Mar;43(3):534-41. doi: 10.1097/CCM.0000000000000718. PMID: 25474535Free PMC Article
Edwards SE, Grobman WA, Lappen JR, Winter C, Fox R, Lenguerrand E, Draycott T
Am J Obstet Gynecol 2015 Apr;212(4):536.e1-8. Epub 2014 Nov 8 doi: 10.1016/j.ajog.2014.11.007. [Epub ahead of print] PMID: 25446705
Knowles SJ, O'Sullivan NP, Meenan AM, Hanniffy R, Robson M
BJOG 2015 Apr;122(5):663-71. Epub 2014 May 23 doi: 10.1111/1471-0528.12892. [Epub ahead of print] PMID: 24862293

Diagnosis

Capp R, Horton CL, Takhar SS, Ginde AA, Peak DA, Zane R, Marill KA
Crit Care Med 2015 May;43(5):983-8. doi: 10.1097/CCM.0000000000000861. PMID: 25668750
Shao H, Luo R, Wang X, Pan X, Chen G
J Wound Care 2015 Feb;24(2):73-4, 77-8. doi: 10.12968/jowc.2015.24.2.73. PMID: 25647435
Edwards SE, Grobman WA, Lappen JR, Winter C, Fox R, Lenguerrand E, Draycott T
Am J Obstet Gynecol 2015 Apr;212(4):536.e1-8. Epub 2014 Nov 8 doi: 10.1016/j.ajog.2014.11.007. [Epub ahead of print] PMID: 25446705
de Oliveira FS, Freitas FG, Ferreira EM, de Castro I, Bafi AT, de Azevedo LC, Machado FR
J Crit Care 2015 Feb;30(1):97-101. Epub 2014 Sep 6 doi: 10.1016/j.jcrc.2014.09.002. [Epub ahead of print] PMID: 25269788
de Azevedo JR, Torres OJ, Beraldi RA, Ribas CA, Malafaia O
J Crit Care 2015 Feb;30(1):219.e9-12. Epub 2014 Sep 10 doi: 10.1016/j.jcrc.2014.08.018. [Epub ahead of print] PMID: 25241933

Therapy

Cross G, Bilgrami I, Eastwood G, Johnson P, Howden BP, Bellomo R, Jones D
Anaesth Intensive Care 2015 Mar;43(2):193-8. PMID: 25735684
Janz DR, Bastarache JA, Rice TW, Bernard GR, Warren MA, Wickersham N, Sills G, Oates JA, Roberts LJ 2nd, Ware LB; Acetaminophen for the Reduction of Oxidative Injury in Severe Sepsis Study Group
Crit Care Med 2015 Mar;43(3):534-41. doi: 10.1097/CCM.0000000000000718. PMID: 25474535Free PMC Article
de Oliveira FS, Freitas FG, Ferreira EM, de Castro I, Bafi AT, de Azevedo LC, Machado FR
J Crit Care 2015 Feb;30(1):97-101. Epub 2014 Sep 6 doi: 10.1016/j.jcrc.2014.09.002. [Epub ahead of print] PMID: 25269788
de Azevedo JR, Torres OJ, Beraldi RA, Ribas CA, Malafaia O
J Crit Care 2015 Feb;30(1):219.e9-12. Epub 2014 Sep 10 doi: 10.1016/j.jcrc.2014.08.018. [Epub ahead of print] PMID: 25241933
Knowles SJ, O'Sullivan NP, Meenan AM, Hanniffy R, Robson M
BJOG 2015 Apr;122(5):663-71. Epub 2014 May 23 doi: 10.1111/1471-0528.12892. [Epub ahead of print] PMID: 24862293

Prognosis

Capp R, Horton CL, Takhar SS, Ginde AA, Peak DA, Zane R, Marill KA
Crit Care Med 2015 May;43(5):983-8. doi: 10.1097/CCM.0000000000000861. PMID: 25668750
Weinkove R, Bailey M, Bellomo R, Saxena MK, Tam CS, Pilcher DV, Beasley R, Young PJ
Ann Hematol 2015 May;94(5):857-64. Epub 2014 Dec 18 doi: 10.1007/s00277-014-2273-z. [Epub ahead of print] PMID: 25516454
Janz DR, Bastarache JA, Rice TW, Bernard GR, Warren MA, Wickersham N, Sills G, Oates JA, Roberts LJ 2nd, Ware LB; Acetaminophen for the Reduction of Oxidative Injury in Severe Sepsis Study Group
Crit Care Med 2015 Mar;43(3):534-41. doi: 10.1097/CCM.0000000000000718. PMID: 25474535Free PMC Article
Edwards SE, Grobman WA, Lappen JR, Winter C, Fox R, Lenguerrand E, Draycott T
Am J Obstet Gynecol 2015 Apr;212(4):536.e1-8. Epub 2014 Nov 8 doi: 10.1016/j.ajog.2014.11.007. [Epub ahead of print] PMID: 25446705
Knowles SJ, O'Sullivan NP, Meenan AM, Hanniffy R, Robson M
BJOG 2015 Apr;122(5):663-71. Epub 2014 May 23 doi: 10.1111/1471-0528.12892. [Epub ahead of print] PMID: 24862293

Clinical prediction guides

Capp R, Horton CL, Takhar SS, Ginde AA, Peak DA, Zane R, Marill KA
Crit Care Med 2015 May;43(5):983-8. doi: 10.1097/CCM.0000000000000861. PMID: 25668750
Edwards SE, Grobman WA, Lappen JR, Winter C, Fox R, Lenguerrand E, Draycott T
Am J Obstet Gynecol 2015 Apr;212(4):536.e1-8. Epub 2014 Nov 8 doi: 10.1016/j.ajog.2014.11.007. [Epub ahead of print] PMID: 25446705
de Oliveira FS, Freitas FG, Ferreira EM, de Castro I, Bafi AT, de Azevedo LC, Machado FR
J Crit Care 2015 Feb;30(1):97-101. Epub 2014 Sep 6 doi: 10.1016/j.jcrc.2014.09.002. [Epub ahead of print] PMID: 25269788
de Azevedo JR, Torres OJ, Beraldi RA, Ribas CA, Malafaia O
J Crit Care 2015 Feb;30(1):219.e9-12. Epub 2014 Sep 10 doi: 10.1016/j.jcrc.2014.08.018. [Epub ahead of print] PMID: 25241933
Fuller BM, Mohr NM, Graetz TJ, Lynch IP, Dettmer M, Cullison K, Coney T, Gogineni S, Gregory R
J Crit Care 2015 Feb;30(1):65-70. Epub 2014 Aug 7 doi: 10.1016/j.jcrc.2014.07.027. [Epub ahead of print] PMID: 25179413Free PMC Article

Recent systematic reviews

Pammi M, Abrams SA
Cochrane Database Syst Rev 2015 Feb 20;2:CD007137. doi: 10.1002/14651858.CD007137.pub4. PMID: 25699678
Harrison AM, Thongprayoon C, Kashyap R, Chute CG, Gajic O, Pickering BW, Herasevich V
Mayo Clin Proc 2015 Feb;90(2):166-75. Epub 2015 Jan 6 doi: 10.1016/j.mayocp.2014.11.014. [Epub ahead of print] PMID: 25576199
Deshpande A, Pasupuleti V, Rothberg MB
Am J Med 2015 Apr;128(4):410-7.e1. Epub 2014 Dec 17 doi: 10.1016/j.amjmed.2014.10.057. [Epub ahead of print] PMID: 25526798
Zarychanski R, Abou-Setta AM, Kanji S, Turgeon AF, Kumar A, Houston DS, Rimmer E, Houston BL, McIntyre L, Fox-Robichaud AE, Hébert P, Cook DJ, Fergusson DA; Canadian Critical Care Trials Group
Crit Care Med 2015 Mar;43(3):511-8. doi: 10.1097/CCM.0000000000000763. PMID: 25493972
Sheyin O, Davies O, Duan W, Perez X
Heart Lung 2015 Jan-Feb;44(1):75-81. Epub 2014 Nov 18 doi: 10.1016/j.hrtlng.2014.10.002. [Epub ahead of print] PMID: 25453390

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