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Atypical hemolytic-uremic syndrome 2(AHUS2)

MedGen UID:
414167
Concept ID:
C2752040
Finding
Synonyms: AHUS, SUSCEPTIBILITY TO, 2; AHUS2; HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
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:
892334
Concept ID:
CN000007
Functional Concept
Source: HPO
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)
 
Gene (location): CD46 (1q32.2)
OMIM®: 612922
Orphanet: ORPHA93576

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

Hypertension
MedGen UID:
635666
Concept ID:
C0497247
Finding
A finding of increased blood pressure; not necessarily hypertensive disorder
Hematuria
MedGen UID:
5488
Concept ID:
C0018965
Finding
The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.
Anuria
MedGen UID:
892320
Concept ID:
C2188545
Sign or Symptom
Hypertension
MedGen UID:
635666
Concept ID:
C0497247
Finding
A finding of increased blood pressure; not necessarily hypertensive disorder
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Finding
A reduction in the number of circulating thrombocytes.
Microangiopathic hemolytic anemia
MedGen UID:
505013
Concept ID:
CN001753
Finding
Hematuria
MedGen UID:
5488
Concept ID:
C0018965
Finding
The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.
Increased blood urea nitrogen (BUN)
MedGen UID:
760252
Concept ID:
C0151539
Finding
An increased amount of nitrogen in the form of urea in the blood.
Elevated serum creatinine
MedGen UID:
148579
Concept ID:
C0700225
Finding
An increased amount of creatinine in the blood.

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

Bernabéu-Herrero ME, Jiménez-Alcázar M, Anter J, Pinto S, Sánchez Chinchilla D, Garrido S, López-Trascasa M, Rodríguez de Córdoba S, Sánchez-Corral P
Mol Immunol 2015 Oct;67(2 Pt B):276-86. Epub 2015 Jul 7 doi: 10.1016/j.molimm.2015.06.021. PMID: 26163426
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
Mohlin FC, Nilsson SC, Levart TK, Golubovic E, Rusai K, Müller-Sacherer T, Arbeiter K, Pállinger É, Szarvas N, Csuka D, Szilágyi Á, Villoutreix BO, Prohászka Z, Blom AM
Mol Immunol 2015 Jun;65(2):367-76. Epub 2015 Feb 28 doi: 10.1016/j.molimm.2015.02.013. PMID: 25733390
Schramm EC, Roumenina LT, Rybkine T, Chauvet S, Vieira-Martins P, Hue C, Maga T, Valoti E, Wilson V, Jokiranta S, Smith RJ, Noris M, Goodship T, Atkinson JP, Fremeaux-Bacchi V
Blood 2015 Apr 9;125(15):2359-69. Epub 2015 Jan 21 doi: 10.1182/blood-2014-10-609073. PMID: 25608561Free PMC Article
Fakhouri F, Delmas Y, Provot F, Barbet C, Karras A, Makdassi R, Courivaud C, Rifard K, Servais A, Allard C, Besson V, Cousin M, Châtelet V, Goujon JM, Coindre JP, Laurent G, Loirat C, Frémeaux-Bacchi V
Am J Kidney Dis 2014 Jan;63(1):40-8. Epub 2013 Sep 8 doi: 10.1053/j.ajkd.2013.07.011. PMID: 24021908

Diagnosis

Volokhina EB, van de Kar NC, Bergseth G, van der Velden TJ, Westra D, Wetzels JF, van den Heuvel LP, Mollnes TE
Clin Immunol 2015 Oct;160(2):237-43. Epub 2015 Jun 23 doi: 10.1016/j.clim.2015.05.018. PMID: 26111482
Magro CM, Momtahen S, Mulvey JJ, Yassin AH, Kaplan RB, Laurence JC
Am J Dermatopathol 2015 May;37(5):349-56; quiz 357-9. doi: 10.1097/DAD.0000000000000234. PMID: 25893747Free PMC Article
Sharma S, Pradhan M, Meyers KE, Le Palma K, Laskin BL
Clin Nephrol 2015 Sep;84(3):181-5. doi: 10.5414/CN108532. PMID: 25816809Free PMC Article
Fakhouri F, Delmas Y, Provot F, Barbet C, Karras A, Makdassi R, Courivaud C, Rifard K, Servais A, Allard C, Besson V, Cousin M, Châtelet V, Goujon JM, Coindre JP, Laurent G, Loirat C, Frémeaux-Bacchi V
Am J Kidney Dis 2014 Jan;63(1):40-8. Epub 2013 Sep 8 doi: 10.1053/j.ajkd.2013.07.011. PMID: 24021908
Foltyn Zadura A, Zipfel PF, Bokarewa MI, Sturfelt G, Jönsen A, Nilsson SC, Hillarp A, Saxne T, Trouw LA, Blom AM
Arthritis Res Ther 2012 Aug 15;14(4):R185. doi: 10.1186/ar4016. PMID: 22894814Free PMC Article

Therapy

Volokhina EB, van de Kar NC, Bergseth G, van der Velden TJ, Westra D, Wetzels JF, van den Heuvel LP, Mollnes TE
Clin Immunol 2015 Oct;160(2):237-43. Epub 2015 Jun 23 doi: 10.1016/j.clim.2015.05.018. PMID: 26111482
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
Magro CM, Momtahen S, Mulvey JJ, Yassin AH, Kaplan RB, Laurence JC
Am J Dermatopathol 2015 May;37(5):349-56; quiz 357-9. doi: 10.1097/DAD.0000000000000234. PMID: 25893747Free PMC Article
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
Fakhouri F, Delmas Y, Provot F, Barbet C, Karras A, Makdassi R, Courivaud C, Rifard K, Servais A, Allard C, Besson V, Cousin M, Châtelet V, Goujon JM, Coindre JP, Laurent G, Loirat C, Frémeaux-Bacchi V
Am J Kidney Dis 2014 Jan;63(1):40-8. Epub 2013 Sep 8 doi: 10.1053/j.ajkd.2013.07.011. PMID: 24021908

Prognosis

Volokhina EB, van de Kar NC, Bergseth G, van der Velden TJ, Westra D, Wetzels JF, van den Heuvel LP, Mollnes TE
Clin Immunol 2015 Oct;160(2):237-43. Epub 2015 Jun 23 doi: 10.1016/j.clim.2015.05.018. PMID: 26111482
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
Magro CM, Momtahen S, Mulvey JJ, Yassin AH, Kaplan RB, Laurence JC
Am J Dermatopathol 2015 May;37(5):349-56; quiz 357-9. doi: 10.1097/DAD.0000000000000234. PMID: 25893747Free PMC Article
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
Fakhouri F, Delmas Y, Provot F, Barbet C, Karras A, Makdassi R, Courivaud C, Rifard K, Servais A, Allard C, Besson V, Cousin M, Châtelet V, Goujon JM, Coindre JP, Laurent G, Loirat C, Frémeaux-Bacchi V
Am J Kidney Dis 2014 Jan;63(1):40-8. Epub 2013 Sep 8 doi: 10.1053/j.ajkd.2013.07.011. PMID: 24021908

Clinical prediction guides

Magro CM, Momtahen S, Mulvey JJ, Yassin AH, Kaplan RB, Laurence JC
Am J Dermatopathol 2015 May;37(5):349-56; quiz 357-9. doi: 10.1097/DAD.0000000000000234. PMID: 25893747Free PMC Article
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
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
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

Harambat J, Lamireau D, Delmas Y, Ryman A, Llanas B, Brissaud O
Pediatr Crit Care Med 2011 Mar;12(2):e90-3. doi: 10.1097/PCC.0b013e3181e89f8f. PMID: 20625343
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

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