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Atypical hemolytic-uremic syndrome 4(AHUS4)

MedGen UID:
416691
Concept ID:
C2752038
Finding
Synonyms: AHUS, SUSCEPTIBILITY TO, 4; AHUS4; HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
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).
 
Gene: CFB
Cytogenetic location: 6p21.33
OMIM®: 612924
Orphanet: ORPHA93578

Disease characteristics

Excerpted from the GeneReview: 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. Typical (acquired) HUS is triggered by infectious agents such as strains of E. coli (Stx-E. coli) that produce powerful Shiga-like exotoxins, whereas atypical HUS (aHUS) can be genetic, acquired, or idiopathic (of unknown cause). Onset of atypical HUS ranges from prenatal to adulthood. Individuals with genetic atypical HUS frequently experience relapse even after complete recovery following the presenting episode. Sixty percent of genetic aHUS progresses to end-stage renal disease (ESRD).  [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
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.  http://ghr.nlm.nih.gov/condition/atypical-hemolytic-uremic-syndrome

Clinical features

Hematuria
MedGen UID:
5488
Concept ID:
C0018965
Finding
A disorder characterized by laboratory test results that indicate blood in the urine.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
abnormal presence of protein in urine
Acute kidney injury
MedGen UID:
505006
Concept ID:
CN001736
Finding
Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).
Hemolytic-uremic syndrome
MedGen UID:
505834
Concept ID:
CN004936
Finding
Anuria
MedGen UID:
451861
Concept ID:
CN117412
Finding
Absence of urine, clinically classified as below 50ml/day.
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
Disease or Syndrome
A finding based on laboratory test results that indicate a decrease in number of platelets in a blood specimen.
Microangiopathic hemolytic anemia
MedGen UID:
505013
Concept ID:
CN001753
Finding
Hematuria
MedGen UID:
5488
Concept ID:
C0018965
Finding
A disorder characterized by laboratory test results that indicate blood in the urine.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
abnormal presence of protein in urine
Increased blood urea nitrogen (BUN)
MedGen UID:
505463
Concept ID:
CN002830
Finding
An increased amount of nitrogen in the form of urea in the blood.
Elevated serum creatinine
MedGen UID:
505498
Concept ID:
CN002942
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. [Epub ahead of print] PMID: 19821824

Recent clinical studies

Etiology

Valoti E, Alberti M, Tortajada A, Garcia-Fernandez J, Gastoldi S, Besso L, Bresin E, Remuzzi G, Rodriguez de Cordoba S, Noris M
J Am Soc Nephrol 2015 Jan;26(1):209-19. Epub 2014 Jun 5 doi: 10.1681/ASN.2013121339. [Epub ahead of print] PMID: 24904082Free PMC Article
Matar D, Naqvi F, Racusen LC, Carter-Monroe N, Montgomery RA, Alachkar N
Transplantation 2014 Dec 15;98(11):1205-12. doi: 10.1097/TP.0000000000000200. PMID: 24933457
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. [Epub ahead of print] PMID: 24656451
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. [Epub ahead of print] PMID: 24021908
Ranghino A, Tognarelli G, Basso E, Messina M, Manzione AM, Daidola G, Segoloni GP
Transplant Proc 2013 Sep;45(7):2785-7. doi: 10.1016/j.transproceed.2013.07.012. PMID: 24034049

Diagnosis

Fallahzadeh MA, Fallahzadeh MK, Derakhshan A, Shorafa E, Mojtahedi Y, Geramizadeh B, Fallahzadeh MH
Iran J Kidney Dis 2014 Jul;8(4):341-3. PMID: 25001143
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. [Epub ahead of print] PMID: 24656451
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. [Epub ahead of print] PMID: 24021908
Malina M, Gulati A, Bagga A, Majid MA, Simkova E, Schaefer F
Pediatrics 2013 Jan;131(1):e331-5. Epub 2012 Dec 10 doi: 10.1542/peds.2012-0903. [Epub ahead of print] PMID: 23230076
Vilalta R, Lara E, Madrid A, Chocron S, Muñoz M, Casquero A, Nieto J
Pediatr Nephrol 2012 Dec;27(12):2323-6. Epub 2012 Aug 14 doi: 10.1007/s00467-012-2276-8. [Epub ahead of print] PMID: 22890512Free PMC Article

Therapy

Matar D, Naqvi F, Racusen LC, Carter-Monroe N, Montgomery RA, Alachkar N
Transplantation 2014 Dec 15;98(11):1205-12. doi: 10.1097/TP.0000000000000200. PMID: 24933457
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. [Epub ahead of print] PMID: 24656451
Ardissino G, Tel F, Testa S, Marzano AV, Lazzari R, Salardi S, Edefonti A
Am J Kidney Dis 2014 Apr;63(4):652-5. Epub 2013 Nov 27 doi: 10.1053/j.ajkd.2013.09.020. [Epub ahead of print] PMID: 24290245
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. [Epub ahead of print] PMID: 24021908
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

Valoti E, Alberti M, Tortajada A, Garcia-Fernandez J, Gastoldi S, Besso L, Bresin E, Remuzzi G, Rodriguez de Cordoba S, Noris M
J Am Soc Nephrol 2015 Jan;26(1):209-19. Epub 2014 Jun 5 doi: 10.1681/ASN.2013121339. [Epub ahead of print] PMID: 24904082Free PMC Article
Fallahzadeh MA, Fallahzadeh MK, Derakhshan A, Shorafa E, Mojtahedi Y, Geramizadeh B, Fallahzadeh MH
Iran J Kidney Dis 2014 Jul;8(4):341-3. PMID: 25001143
Matar D, Naqvi F, Racusen LC, Carter-Monroe N, Montgomery RA, Alachkar N
Transplantation 2014 Dec 15;98(11):1205-12. doi: 10.1097/TP.0000000000000200. PMID: 24933457
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. [Epub ahead of print] PMID: 24021908
Fremeaux-Bacchi V, Fakhouri F, Garnier A, Bienaimé F, Dragon-Durey MA, Ngo S, Moulin B, Servais A, Provot F, Rostaing L, Burtey S, Niaudet P, Deschênes G, Lebranchu Y, Zuber J, Loirat C
Clin J Am Soc Nephrol 2013 Apr;8(4):554-62. Epub 2013 Jan 10 doi: 10.2215/CJN.04760512. [Epub ahead of print] PMID: 23307876Free PMC Article

Clinical prediction guides

Matar D, Naqvi F, Racusen LC, Carter-Monroe N, Montgomery RA, Alachkar N
Transplantation 2014 Dec 15;98(11):1205-12. doi: 10.1097/TP.0000000000000200. PMID: 24933457
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. [Epub ahead of print] PMID: 24656451
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
Malina M, Gulati A, Bagga A, Majid MA, Simkova E, Schaefer F
Pediatrics 2013 Jan;131(1):e331-5. Epub 2012 Dec 10 doi: 10.1542/peds.2012-0903. [Epub ahead of print] PMID: 23230076
Westra D, Vernon KA, Volokhina EB, Pickering MC, van de Kar NC, van den Heuvel LP
J Hum Genet 2012 Jul;57(7):459-64. Epub 2012 May 24 doi: 10.1038/jhg.2012.57. [Epub ahead of print] PMID: 22622361Free PMC Article

Recent systematic reviews

Ariceta G, Besbas N, Johnson S, Karpman D, Landau D, Licht C, Loirat C, Pecoraro C, Taylor CM, Van de Kar N, Vandewalle J, Zimmerhackl LB; European Paediatric Study Group for HUS
Pediatr Nephrol 2009 Apr;24(4):687-96. Epub 2008 Sep 18 doi: 10.1007/s00467-008-0964-1. [Epub ahead of print] PMID: 18800230

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