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Atypical hemolytic-uremic syndrome

MedGen UID:
444141
Concept ID:
C2931788
Disease or Syndrome
Synonym: Atypical HUS
SNOMED CT: aHUS - atypical hemolytic uremic syndrome (789660001); Atypical hemolytic uremic syndrome (789660001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same 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
Source: 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.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Gene (location): CFHR4 (1q31.3)
Related genes: CFHR3, THBD, CD46, CFI, CFHR1, CFH, C3, CFB
 
Monarch Initiative: MONDO:0016244
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 MedlinePlus Genetics
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. Anemia 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 cells 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.

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.

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.  https://medlineplus.gov/genetics/condition/atypical-hemolytic-uremic-syndrome

Term Hierarchy

Follow this link to review classifications for Atypical hemolytic-uremic syndrome in Orphanet.

Professional guidelines

PubMed

Raina R, Krishnappa V, Blaha T, Kann T, Hein W, Burke L, Bagga A
Ther Apher Dial 2019 Feb;23(1):4-21. Epub 2018 Oct 29 doi: 10.1111/1744-9987.12763. PMID: 30294946
Gupta M, Feinberg BB, Burwick RM
Pregnancy Hypertens 2018 Apr;12:29-34. Epub 2018 Feb 16 doi: 10.1016/j.preghy.2018.02.007. PMID: 29674195
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

Recent clinical studies

Etiology

Leon J, LeStang MB, Sberro-Soussan R, Servais A, Anglicheau D, Frémeaux-Bacchi V, Zuber J
Am J Hematol 2023 May;98 Suppl 4:S44-S56. doi: 10.1002/ajh.26854. PMID: 36683290
Fakhouri F, Schwotzer N, Frémeaux-Bacchi V
Blood 2023 Mar 2;141(9):984-995. doi: 10.1182/blood.2022017860. PMID: 36322940
Manrique-Caballero CL, Peerapornratana S, Formeck C, Del Rio-Pertuz G, Gomez Danies H, Kellum JA
Crit Care Clin 2020 Apr;36(2):333-356. Epub 2020 Jan 31 doi: 10.1016/j.ccc.2019.11.004. PMID: 32172817
Brocklebank V, Wood KM, Kavanagh D
Clin J Am Soc Nephrol 2018 Feb 7;13(2):300-317. Epub 2017 Oct 17 doi: 10.2215/CJN.00620117. PMID: 29042465Free 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

Diagnosis

Fakhouri F, Schwotzer N, Frémeaux-Bacchi V
Blood 2023 Mar 2;141(9):984-995. doi: 10.1182/blood.2022017860. PMID: 36322940
Kellum JA, Formeck CL, Kernan KF, Gómez H, Carcillo JA
Crit Care Clin 2022 Apr;38(2):195-211. doi: 10.1016/j.ccc.2021.11.013. PMID: 35369943
Manrique-Caballero CL, Peerapornratana S, Formeck C, Del Rio-Pertuz G, Gomez Danies H, Kellum JA
Crit Care Clin 2020 Apr;36(2):333-356. Epub 2020 Jan 31 doi: 10.1016/j.ccc.2019.11.004. PMID: 32172817
Yoshida Y, Kato H, Ikeda Y, Nangaku M
J Atheroscler Thromb 2019 Feb 1;26(2):99-110. Epub 2018 Nov 2 doi: 10.5551/jat.RV17026. PMID: 30393246Free PMC Article
Raina R, Krishnappa V, Blaha T, Kann T, Hein W, Burke L, Bagga A
Ther Apher Dial 2019 Feb;23(1):4-21. Epub 2018 Oct 29 doi: 10.1111/1744-9987.12763. PMID: 30294946

Therapy

Garnier A, Brochard K, Kwon T, Sellier-Leclerc AL, Lahoche A, Launay EA, Nobili F, Caillez M, Taque S, Harambat J, Michel-Bourdat G, Guigonis V, Fila M, Cloarec S, Djamal-Dine D, de Parscaux L, Allard L, Salomon R, Ulinski T, Frémeaux-Bacchi V, Morin C, Olivier-Abbal P, Colineaux H, Auriol F, Arnaud C, Kieffer I, Brusq C
J Am Soc Nephrol 2023 Sep 1;34(9):1561-1573. Epub 2023 Jun 12 doi: 10.1681/ASN.0000000000000182. PMID: 37303085Free PMC Article
Brocklebank V, Wood KM, Kavanagh D
Clin J Am Soc Nephrol 2018 Feb 7;13(2):300-317. Epub 2017 Oct 17 doi: 10.2215/CJN.00620117. PMID: 29042465Free 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
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
Legendre CM, Licht C, Muus P, Greenbaum LA, Babu S, Bedrosian C, Bingham C, Cohen DJ, Delmas Y, Douglas K, Eitner F, Feldkamp T, Fouque D, Furman RR, Gaber O, Herthelius M, Hourmant M, Karpman D, Lebranchu Y, Mariat C, Menne J, Moulin B, Nürnberger J, Ogawa M, Remuzzi G, Richard T, Sberro-Soussan R, Severino B, Sheerin NS, Trivelli A, Zimmerhackl LB, Goodship T, Loirat C
N Engl J Med 2013 Jun 6;368(23):2169-81. doi: 10.1056/NEJMoa1208981. PMID: 23738544

Prognosis

Leon J, LeStang MB, Sberro-Soussan R, Servais A, Anglicheau D, Frémeaux-Bacchi V, Zuber J
Am J Hematol 2023 May;98 Suppl 4:S44-S56. doi: 10.1002/ajh.26854. PMID: 36683290
Manrique-Caballero CL, Peerapornratana S, Formeck C, Del Rio-Pertuz G, Gomez Danies H, Kellum JA
Crit Care Clin 2020 Apr;36(2):333-356. Epub 2020 Jan 31 doi: 10.1016/j.ccc.2019.11.004. PMID: 32172817
Yoshida Y, Kato H, Ikeda Y, Nangaku M
J Atheroscler Thromb 2019 Feb 1;26(2):99-110. Epub 2018 Nov 2 doi: 10.5551/jat.RV17026. PMID: 30393246Free PMC Article
Brocklebank V, Wood KM, Kavanagh D
Clin J Am Soc Nephrol 2018 Feb 7;13(2):300-317. Epub 2017 Oct 17 doi: 10.2215/CJN.00620117. PMID: 29042465Free PMC Article
Noris M, Remuzzi G
N Engl J Med 2009 Oct 22;361(17):1676-87. doi: 10.1056/NEJMra0902814. PMID: 19846853

Clinical prediction guides

Manrique-Caballero CL, Peerapornratana S, Formeck C, Del Rio-Pertuz G, Gomez Danies H, Kellum JA
Crit Care Clin 2020 Apr;36(2):333-356. Epub 2020 Jan 31 doi: 10.1016/j.ccc.2019.11.004. PMID: 32172817
Yoshida Y, Kato H, Ikeda Y, Nangaku M
J Atheroscler Thromb 2019 Feb 1;26(2):99-110. Epub 2018 Nov 2 doi: 10.5551/jat.RV17026. PMID: 30393246Free PMC Article
Gupta M, Feinberg BB, Burwick RM
Pregnancy Hypertens 2018 Apr;12:29-34. Epub 2018 Feb 16 doi: 10.1016/j.preghy.2018.02.007. PMID: 29674195
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
Legendre CM, Licht C, Muus P, Greenbaum LA, Babu S, Bedrosian C, Bingham C, Cohen DJ, Delmas Y, Douglas K, Eitner F, Feldkamp T, Fouque D, Furman RR, Gaber O, Herthelius M, Hourmant M, Karpman D, Lebranchu Y, Mariat C, Menne J, Moulin B, Nürnberger J, Ogawa M, Remuzzi G, Richard T, Sberro-Soussan R, Severino B, Sheerin NS, Trivelli A, Zimmerhackl LB, Goodship T, Loirat C
N Engl J Med 2013 Jun 6;368(23):2169-81. doi: 10.1056/NEJMoa1208981. PMID: 23738544

Recent systematic reviews

de Souza RM, Correa BHM, Melo PHM, Pousa PA, de Mendonça TSC, Rodrigues LGC, Simões E Silva AC
Pediatr Nephrol 2023 Jan;38(1):61-75. Epub 2022 Jul 21 doi: 10.1007/s00467-022-05683-2. PMID: 35864223
Raina R, Sethi SK, Dragon-Durey MA, Khooblall A, Sharma D, Khandelwal P, Shapiro R, Boyer O, Yap HK, Bagga A, Licht C
Pediatr Nephrol 2022 Jul;37(7):1479-1493. Epub 2022 Feb 3 doi: 10.1007/s00467-022-05451-2. PMID: 35118546
Pugh D, O'Sullivan ED, Duthie FA, Masson P, Kavanagh D
Cochrane Database Syst Rev 2021 Mar 23;3(3):CD012862. doi: 10.1002/14651858.CD012862.pub2. PMID: 33783815Free PMC Article
Garred P, Tenner AJ, Mollnes TE
Pharmacol Rev 2021 Apr;73(2):792-827. doi: 10.1124/pharmrev.120.000072. PMID: 33687995Free PMC Article
Gupta M, Govindappagari S, Burwick RM
Obstet Gynecol 2020 Jan;135(1):46-58. doi: 10.1097/AOG.0000000000003554. PMID: 31809447Free PMC Article

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