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Atypical hemolytic uremic syndrome(AHUS)

MedGen UID:
444141
Concept ID:
C2931788
Disease or Syndrome
Synonyms: AHUS
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: OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
not inherited (Orphanet)
 
Gene (location): CFHR4 (1q31.3)
Related genes: CFHR3, THBD, CD46, CFI, CFHR1, CFH, C3, CFB
Orphanet: ORPHA2134

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

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

Loirat C, Fakhouri F, Ariceta G, Besbas N, Bitzan M, Bjerre A, Coppo R, Emma F, Johnson S, Karpman D, Landau D, Langman CB, Lapeyraque AL, Licht C, Nester C, Pecoraro C, Riedl M, van de Kar NC, Van de Walle J, Vivarelli M, Frémeaux-Bacchi V; HUS International.
Pediatr Nephrol 2016 Jan;31(1):15-39. Epub 2015 Apr 11 doi: 10.1007/s00467-015-3076-8. PMID: 25859752
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
Martínez-Barricarte R, Heurich M, López-Perrote A, Tortajada A, Pinto S, López-Trascasa M, Sánchez-Corral P, Morgan BP, Llorca O, Harris CL, Rodríguez de Córdoba S
Mol Immunol 2015 Aug;66(2):263-73. Epub 2015 Apr 11 doi: 10.1016/j.molimm.2015.03.248. PMID: 25879158Free PMC Article
Kourouklaris A, Ioannou K, Athanasiou I, Panagidou A, Demetriou K, Zavros M
J Med Case Rep 2014 Sep 14;8:307. doi: 10.1186/1752-1947-8-307. PMID: 25219386Free PMC Article
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

Loirat C, Fakhouri F, Ariceta G, Besbas N, Bitzan M, Bjerre A, Coppo R, Emma F, Johnson S, Karpman D, Landau D, Langman CB, Lapeyraque AL, Licht C, Nester C, Pecoraro C, Riedl M, van de Kar NC, Van de Walle J, Vivarelli M, Frémeaux-Bacchi V; HUS International.
Pediatr Nephrol 2016 Jan;31(1):15-39. Epub 2015 Apr 11 doi: 10.1007/s00467-015-3076-8. PMID: 25859752
Nayer A, Asif A
Am J Ther 2016 Jan-Feb;23(1):e151-8. doi: 10.1097/MJT.0b013e31829b59dc. PMID: 24681522
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
Rafiq A, Tariq H, Abbas N, Shenoy R
Am J Case Rep 2015 Feb 24;16:109-14. doi: 10.12659/AJCR.892907. PMID: 25708146Free PMC Article
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

Loirat C, Fakhouri F, Ariceta G, Besbas N, Bitzan M, Bjerre A, Coppo R, Emma F, Johnson S, Karpman D, Landau D, Langman CB, Lapeyraque AL, Licht C, Nester C, Pecoraro C, Riedl M, van de Kar NC, Van de Walle J, Vivarelli M, Frémeaux-Bacchi V; HUS International.
Pediatr Nephrol 2016 Jan;31(1):15-39. Epub 2015 Apr 11 doi: 10.1007/s00467-015-3076-8. PMID: 25859752
Nayer A, Asif A
Am J Ther 2016 Jan-Feb;23(1):e151-8. doi: 10.1097/MJT.0b013e31829b59dc. PMID: 24681522
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
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

Loirat C, Fakhouri F, Ariceta G, Besbas N, Bitzan M, Bjerre A, Coppo R, Emma F, Johnson S, Karpman D, Landau D, Langman CB, Lapeyraque AL, Licht C, Nester C, Pecoraro C, Riedl M, van de Kar NC, Van de Walle J, Vivarelli M, Frémeaux-Bacchi V; HUS International.
Pediatr Nephrol 2016 Jan;31(1):15-39. Epub 2015 Apr 11 doi: 10.1007/s00467-015-3076-8. PMID: 25859752
Nayer A, Asif A
Am J Ther 2016 Jan-Feb;23(1):e151-8. doi: 10.1097/MJT.0b013e31829b59dc. PMID: 24681522
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
Rafiq A, Tariq H, Abbas N, Shenoy R
Am J Case Rep 2015 Feb 24;16:109-14. doi: 10.12659/AJCR.892907. PMID: 25708146Free PMC Article

Clinical prediction guides

Vaught AJ, Gavriilaki E, Hueppchen N, Blakemore K, Yuan X, Seifert SM, York S, Brodsky RA
Exp Hematol 2016 May;44(5):390-8. Epub 2016 Feb 26 doi: 10.1016/j.exphem.2016.01.005. PMID: 26921648Free PMC Article
Loirat C, Fakhouri F, Ariceta G, Besbas N, Bitzan M, Bjerre A, Coppo R, Emma F, Johnson S, Karpman D, Landau D, Langman CB, Lapeyraque AL, Licht C, Nester C, Pecoraro C, Riedl M, van de Kar NC, Van de Walle J, Vivarelli M, Frémeaux-Bacchi V; HUS International.
Pediatr Nephrol 2016 Jan;31(1):15-39. Epub 2015 Apr 11 doi: 10.1007/s00467-015-3076-8. PMID: 25859752
Martínez-Barricarte R, Heurich M, López-Perrote A, Tortajada A, Pinto S, López-Trascasa M, Sánchez-Corral P, Morgan BP, Llorca O, Harris CL, Rodríguez de Córdoba S
Mol Immunol 2015 Aug;66(2):263-73. Epub 2015 Apr 11 doi: 10.1016/j.molimm.2015.03.248. PMID: 25879158Free PMC Article
Sánchez Chinchilla D, Pinto S, Hoppe B, Adragna M, Lopez L, Justa Roldan ML, Peña A, Lopez Trascasa M, Sánchez-Corral P, Rodríguez de Córdoba S
Clin J Am Soc Nephrol 2014 Sep 5;9(9):1611-9. Epub 2014 Aug 18 doi: 10.2215/CJN.01640214. PMID: 25135762Free PMC Article
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

Loirat C, Fakhouri F, Ariceta G, Besbas N, Bitzan M, Bjerre A, Coppo R, Emma F, Johnson S, Karpman D, Landau D, Langman CB, Lapeyraque AL, Licht C, Nester C, Pecoraro C, Riedl M, van de Kar NC, Van de Walle J, Vivarelli M, Frémeaux-Bacchi V; HUS International.
Pediatr Nephrol 2016 Jan;31(1):15-39. Epub 2015 Apr 11 doi: 10.1007/s00467-015-3076-8. PMID: 25859752
Nayer A, Asif A
Am J Ther 2016 Jan-Feb;23(1):e151-8. doi: 10.1097/MJT.0b013e31829b59dc. PMID: 24681522
Sawai T, Nangaku M, Ashida A, Fujimaru R, Hataya H, Hidaka Y, Kaname S, Okada H, Sato W, Yasuda T, Yoshida Y, Fujimura Y, Hattori M, Kagami S; Joint Committee of the Japanese Society of Nephrology and the Japan Pediatric Society.
Clin Exp Nephrol 2014 Feb;18(1):4-9. doi: 10.1007/s10157-013-0911-8. PMID: 24343712
Campistol JM, Arias M, Ariceta G, Blasco M, Espinosa M, Grinyó JM, Praga M, Torra R, Vilalta R, Rodríguez de Córdoba S
Nefrologia 2013 Jan 18;33(1):27-45. doi: 10.3265/Nefrologia.pre2012.Nov.11781. PMID: 23364625
Zuber J, Fakhouri F, Roumenina LT, Loirat C, Frémeaux-Bacchi V; French Study Group for aHUS/C3G.
Nat Rev Nephrol 2012 Nov;8(11):643-57. Epub 2012 Oct 2 doi: 10.1038/nrneph.2012.214. PMID: 23026949

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