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Atypical hemolytic-uremic syndrome 3(AHUS3)

MedGen UID:
414542
Concept ID:
C2752039
Finding
Synonyms: AHUS, SUSCEPTIBILITY TO, 3; AHUS3; HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): CFI (4q25)
OMIM®: 612923

Disease characteristics

Excerpted from the GeneReview: Genetic Atypical Hemolytic-Uremic Syndrome
Hemolytic-uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. The onset of atypical HUS (aHUS) ranges from the neonatal period to adulthood. Genetic aHUS accounts for an estimated 60% of all aHUS. Individuals with genetic aHUS frequently experience relapse even after complete recovery following the presenting episode; 60% of genetic aHUS progresses to end-stage renal disease (ESRD). [from GeneReviews]
Authors:
Marina Noris  |  Elena Bresin  |  Caterina Mele, et. al.   view full author information

Additional description

From GHR
Atypical hemolytic-uremic syndrome is a disease that primarily affects kidney function. This condition, which can occur at any age, causes abnormal blood clots (thrombi) to form in small blood vessels in the kidneys. These clots can cause serious medical problems if they restrict or block blood flow. Atypical hemolytic-uremic syndrome is characterized by three major features related to abnormal clotting: hemolytic anemia, thrombocytopenia, and kidney failure.Hemolytic anemia occurs when red blood cells break down (undergo hemolysis) prematurely. In atypical hemolytic-uremic syndrome, red blood cells can break apart as they squeeze past clots within small blood vessels. Anemia results if these cells are destroyed faster than the body can replace them. This condition can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), fatigue, shortness of breath, and a rapid heart rate.Thrombocytopenia is a reduced level of circulating platelets, which are cell fragments that normally assist with blood clotting. In people with atypical hemolytic-uremic syndrome, fewer platelets are available in the bloodstream because a large number of platelets are used to make abnormal clots. Thrombocytopenia can cause easy bruising and abnormal bleeding.As a result of clot formation in small blood vessels, people with atypical hemolytic-uremic syndrome experience kidney damage and acute kidney failure that lead to end-stage renal disease (ESRD) in about half of all cases. These life-threatening complications prevent the kidneys from filtering fluids and waste products from the body effectively.Atypical hemolytic-uremic syndrome should be distinguished from a more common condition called typical hemolytic-uremic syndrome. The two disorders have different causes and different signs and symptoms. Unlike the atypical form, the typical form is caused by infection with certain strains of Escherichia coli bacteria that produce toxic substances called Shiga-like toxins. The typical form is characterized by severe diarrhea and most often affects children younger than 10. The typical form is less likely than the atypical form to involve recurrent attacks of kidney damage that lead to ESRD.  https://ghr.nlm.nih.gov/condition/atypical-hemolytic-uremic-syndrome

Clinical features

Anuria
MedGen UID:
358
Concept ID:
C0003460
Disease or Syndrome
Absence of urine formation. It is usually associated with complete bilateral ureteral (URETER) obstruction, complete lower urinary tract obstruction, or unilateral ureteral obstruction when a solitary kidney is present.
Hematuria
MedGen UID:
5488
Concept ID:
C0018965
Disease or Syndrome
Blood in the urine.
Hemolytic-uremic syndrome
MedGen UID:
42403
Concept ID:
C0019061
Disease or Syndrome
A syndrome that is associated with microvascular diseases of the KIDNEY, such as RENAL CORTICAL NECROSIS. It is characterized by hemolytic anemia (ANEMIA, HEMOLYTIC); THROMBOCYTOPENIA; and ACUTE RENAL FAILURE.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome
A laboratory test result indicating that there is an abnormally small number of platelets in the circulating blood.
Increased blood urea nitrogen
MedGen UID:
760252
Concept ID:
C0151539
Finding
An increased amount of nitrogen in the form of urea in the blood.
Microangiopathic hemolytic anemia
MedGen UID:
65120
Concept ID:
C0221021
Disease or Syndrome
Primary shunt hyperbilirubinemia (PSHB) is a rare form of clinical jaundice characterized by increased serum levels of unconjugated bilirubin associated with ineffective erythropoiesis and a hyperplastic bone marrow. Peripheral red blood cell survival is normal (summary by Wang et al., 2006). Although primary shunt hyperbilirubinemia is clinically similar to Gilbert syndrome (143500), affected individuals do not have impaired activity of UDP-glucuronosyltransferase (UGT1A1; 191740). The term 'shunt' refers to a 'shortcut' in bilirubin production, from the bone marrow or from very young red blood cells as opposed to being derived from the hemoglobin of mature circulating erythrocytes (Israels et al., 1959).
Elevated serum creatinine
MedGen UID:
148579
Concept ID:
C0700225
Finding
An increased amount of creatinine in the blood.
Recurrent meningitis
MedGen UID:
152879
Concept ID:
C0746495
Disease or Syndrome
An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis.
Acute kidney injury
MedGen UID:
388570
Concept ID:
C2609414
Injury or Poisoning
Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding

Professional guidelines

PubMed

Taylor CM, Machin S, Wigmore SJ, Goodship TH; working party from the Renal Association, the British Committee for Standards in Haematology and the British Transplantation Society.
Br J Haematol 2010 Jan;148(1):37-47. Epub 2009 Oct 11 doi: 10.1111/j.1365-2141.2009.07916.x. PMID: 19821824

Recent clinical studies

Etiology

Duineveld C, Verhave JC, Berger SP, van de Kar NCAJ, Wetzels JFM
Am J Kidney Dis 2017 Dec;70(6):770-777. Epub 2017 Aug 16 doi: 10.1053/j.ajkd.2017.06.024. PMID: 28821363
Besbas N, Gulhan B, Soylemezoglu O, Ozcakar ZB, Korkmaz E, Hayran M, Ozaltin F
BMC Nephrol 2017 Jan 5;18(1):6. doi: 10.1186/s12882-016-0420-6. PMID: 28056875Free PMC Article
Goodship TH, Cook HT, Fakhouri F, Fervenza FC, Frémeaux-Bacchi V, Kavanagh D, Nester CM, Noris M, Pickering MC, Rodríguez de Córdoba S, Roumenina LT, Sethi S, Smith RJ; Conference Participants.
Kidney Int 2017 Mar;91(3):539-551. Epub 2016 Dec 16 doi: 10.1016/j.kint.2016.10.005. PMID: 27989322
Kawaguchi K, Kawanishi K, Sato M, Itabashi M, Fujii A, Kanetsuna Y, Huchinoue S, Ohashi R, Koike J, Honda K, Nagashima Y, Nitta K
Nephrology (Carlton) 2015 Jul;20 Suppl 2:61-5. doi: 10.1111/nep.12465. PMID: 26031589
Ardissino G, Testa S, Possenti I, Tel F, Paglialonga F, Salardi S, Tedeschi S, Belingheri M, Cugno M
Am J Kidney Dis 2014 Oct;64(4):633-7. Epub 2014 Mar 19 doi: 10.1053/j.ajkd.2014.01.434. PMID: 24656451

Diagnosis

Yuan X, Gavriilaki E, Thanassi JA, Yang G, Baines AC, Podos SD, Huang Y, Huang M, Brodsky RA
Haematologica 2017 Mar;102(3):466-475. Epub 2016 Nov 3 doi: 10.3324/haematol.2016.153312. PMID: 27810992Free PMC Article
Gediz F, Payzin BK, Ecemis S, Güler N, Yilmaz AF, Topcugil F, Berdeli A
Transfus Apher Sci 2016 Dec;55(3):357-362. Epub 2016 Sep 30 doi: 10.1016/j.transci.2016.09.017. PMID: 27742267
Sperati CJ, Moliterno AR
Hematol Oncol Clin North Am 2015 Jun;29(3):541-59. Epub 2015 Apr 4 doi: 10.1016/j.hoc.2015.02.002. PMID: 26043391
Kawaguchi K, Kawanishi K, Sato M, Itabashi M, Fujii A, Kanetsuna Y, Huchinoue S, Ohashi R, Koike J, Honda K, Nagashima Y, Nitta K
Nephrology (Carlton) 2015 Jul;20 Suppl 2:61-5. doi: 10.1111/nep.12465. PMID: 26031589
Ardissino G, Testa S, Possenti I, Tel F, Paglialonga F, Salardi S, Tedeschi S, Belingheri M, Cugno M
Am J Kidney Dis 2014 Oct;64(4):633-7. Epub 2014 Mar 19 doi: 10.1053/j.ajkd.2014.01.434. PMID: 24656451

Therapy

Duineveld C, Verhave JC, Berger SP, van de Kar NCAJ, Wetzels JFM
Am J Kidney Dis 2017 Dec;70(6):770-777. Epub 2017 Aug 16 doi: 10.1053/j.ajkd.2017.06.024. PMID: 28821363
Goodship TH, Cook HT, Fakhouri F, Fervenza FC, Frémeaux-Bacchi V, Kavanagh D, Nester CM, Noris M, Pickering MC, Rodríguez de Córdoba S, Roumenina LT, Sethi S, Smith RJ; Conference Participants.
Kidney Int 2017 Mar;91(3):539-551. Epub 2016 Dec 16 doi: 10.1016/j.kint.2016.10.005. PMID: 27989322
Yuan X, Gavriilaki E, Thanassi JA, Yang G, Baines AC, Podos SD, Huang Y, Huang M, Brodsky RA
Haematologica 2017 Mar;102(3):466-475. Epub 2016 Nov 3 doi: 10.3324/haematol.2016.153312. PMID: 27810992Free PMC Article
Kawaguchi K, Kawanishi K, Sato M, Itabashi M, Fujii A, Kanetsuna Y, Huchinoue S, Ohashi R, Koike J, Honda K, Nagashima Y, Nitta K
Nephrology (Carlton) 2015 Jul;20 Suppl 2:61-5. doi: 10.1111/nep.12465. PMID: 26031589
Ardissino G, Testa S, Possenti I, Tel F, Paglialonga F, Salardi S, Tedeschi S, Belingheri M, Cugno M
Am J Kidney Dis 2014 Oct;64(4):633-7. Epub 2014 Mar 19 doi: 10.1053/j.ajkd.2014.01.434. PMID: 24656451

Prognosis

Duineveld C, Verhave JC, Berger SP, van de Kar NCAJ, Wetzels JFM
Am J Kidney Dis 2017 Dec;70(6):770-777. Epub 2017 Aug 16 doi: 10.1053/j.ajkd.2017.06.024. PMID: 28821363
Besbas N, Gulhan B, Soylemezoglu O, Ozcakar ZB, Korkmaz E, Hayran M, Ozaltin F
BMC Nephrol 2017 Jan 5;18(1):6. doi: 10.1186/s12882-016-0420-6. PMID: 28056875Free PMC Article
Kawaguchi K, Kawanishi K, Sato M, Itabashi M, Fujii A, Kanetsuna Y, Huchinoue S, Ohashi R, Koike J, Honda K, Nagashima Y, Nitta K
Nephrology (Carlton) 2015 Jul;20 Suppl 2:61-5. doi: 10.1111/nep.12465. PMID: 26031589
Rigothier C, Delmas Y, Roumenina LT, Contin-Bordes C, Lepreux S, Bridoux F, Goujon JM, Bachelet T, Touchard G, Frémeaux-Bacchi V, Combe C
Am J Kidney Dis 2015 Aug;66(2):331-6. Epub 2015 May 23 doi: 10.1053/j.ajkd.2015.03.039. PMID: 26015278
Lee JM, Park YS, Lee JH, Park SJ, Shin JI, Park YH, Yoo KH, Cho MH, Kim SY, Kim SH, Namgoong MK, Lee SJ, Lee JH, Cho HY, Han KH, Kang HG, Ha IS, Bae JS, Kim NK, Park WY, Cheong HI
Pediatr Int 2015 Jun;57(3):431-8. Epub 2015 Feb 7 doi: 10.1111/ped.12549. PMID: 25443527

Clinical prediction guides

Asif A, Nayer A, Haas CS
J Nephrol 2017 Jun;30(3):347-362. Epub 2016 Nov 15 doi: 10.1007/s40620-016-0357-7. PMID: 27848226Free PMC Article
Jiang H, Fan MN, Yang M, Lu C, Zhang M, Liu XH, Ma L
Int J Environ Res Public Health 2016 Dec 5;13(12) doi: 10.3390/ijerph13121209. PMID: 27929404Free PMC Article
Gediz F, Payzin BK, Ecemis S, Güler N, Yilmaz AF, Topcugil F, Berdeli A
Transfus Apher Sci 2016 Dec;55(3):357-362. Epub 2016 Sep 30 doi: 10.1016/j.transci.2016.09.017. PMID: 27742267
Cugno M, Gualtierotti R, Possenti I, Testa S, Tel F, Griffini S, Grovetti E, Tedeschi S, Salardi S, Cresseri D, Messa P, Ardissino G
J Thromb Haemost 2014 Sep;12(9):1440-8. Epub 2014 Jul 16 doi: 10.1111/jth.12615. PMID: 24853860
Ardissino G, Testa S, Possenti I, Tel F, Paglialonga F, Salardi S, Tedeschi S, Belingheri M, Cugno M
Am J Kidney Dis 2014 Oct;64(4):633-7. Epub 2014 Mar 19 doi: 10.1053/j.ajkd.2014.01.434. PMID: 24656451

Recent systematic reviews

Jiang H, Fan MN, Yang M, Lu C, Zhang M, Liu XH, Ma L
Int J Environ Res Public Health 2016 Dec 5;13(12) doi: 10.3390/ijerph13121209. PMID: 27929404Free PMC Article
Pickering M, Cook HT
Curr Opin Nephrol Hypertens 2011 May;20(3):271-7. doi: 10.1097/MNH.0b013e328345848b. PMID: 21422921
Michael M, Elliott EJ, Ridley GF, Hodson EM, Craig JC
Cochrane Database Syst Rev 2009 Jan 21;(1):CD003595. doi: 10.1002/14651858.CD003595.pub2. PMID: 19160220
Michael M, Elliott EJ, Craig JC, Ridley G, Hodson EM
Am J Kidney Dis 2009 Feb;53(2):259-72. Epub 2008 Oct 31 doi: 10.1053/j.ajkd.2008.07.038. PMID: 18950913
McLigeyo SO
East Afr Med J 1999 Mar;76(3):148-53. PMID: 10442115

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