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Atypical hemolytic-uremic syndrome 5(AHUS5)

MedGen UID:
442875
Concept ID:
C2752037
Finding
Synonyms: AHUS, SUSCEPTIBILITY TO, 5; AHUS5
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: HPO
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 (location): C3 (19p13.3)
OMIM®: 612925
Orphanet: ORPHA93575

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]
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

Hypertension
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
Blood pressure is the force of your blood pushing against the walls of your arteries. Each time your heart beats, it pumps blood into the arteries. Your blood pressure is highest when your heart beats, pumping the blood. This is called systolic pressure. When your heart is at rest, between beats, your blood pressure falls. This is called diastolic pressure. . Your blood pressure reading uses these two numbers. Usually the systolic number comes before or above the diastolic number. A reading of. -119/79 or lower is normal blood pressure. -140/90 or higher is high blood pressure. -Between 120 and 139 for the top number, or between 80 and 89 for the bottom number is called prehypertension. Prehypertension means you may end up with high blood pressure, unless you take steps to prevent it. High blood pressure usually has no symptoms, but it can cause serious problems such as stroke, heart failure, heart attack and kidney failure. You can control high blood pressure through healthy lifestyle habits and taking medicines, if needed. . NIH: National Heart, Lung, and Blood Institute.
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Finding
A reduction in the number of circulating thrombocytes.
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).
Anuria
MedGen UID:
358
Concept ID:
C0003460
Disease or Syndrome
Absence of urine, clinically classified as below 50ml/day.
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).
Hemolytic uremic syndrome
MedGen UID:
42403
Concept ID:
C0019061
Disease or Syndrome
A form of thrombotic microangiopathy with renal failure, hemolytic anemia, and severe thrombocytopenia.
Acute renal failure syndrome
MedGen UID:
9636
Concept ID:
C0022660
Disease or Syndrome
A severe stage of acute renal insufficiency, characterized by the sudden decrease in GLOMERULAR FILTRATION RATE to less than 15 ml per min, sometime to less than 1 to 2 ml per min. It is usually associated with OLIGURIA; EDEMA; and increase in BLOOD UREA NITROGEN and serum CREATININE concentrations.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.
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.
Serum creatinine raised
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. [Epub ahead of print] PMID: 19821824

Recent clinical studies

Etiology

Hofer J, Giner T, Cortina G, Jungraithmayr T, Masalskiene J, Dobiliene D, Mitkiene R, Pundziene B, Rudaitis S
Pediatr Transplant 2015 Aug;19(5):E121-5. Epub 2015 Jun 3 doi: 10.1111/petr.12519. [Epub ahead of print] PMID: 26037622
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
Yoshida Y, Miyata T, Matsumoto M, Shirotani-Ikejima H, Uchida Y, Ohyama Y, Kokubo T, Fujimura Y
PLoS One 2015;10(5):e0124655. Epub 2015 May 7 doi: 10.1371/journal.pone.0124655. PMID: 25951460Free PMC Article
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. [Epub ahead of print] PMID: 25608561Free PMC Article
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

Diagnosis

Hofer J, Giner T, Cortina G, Jungraithmayr T, Masalskiene J, Dobiliene D, Mitkiene R, Pundziene B, Rudaitis S
Pediatr Transplant 2015 Aug;19(5):E121-5. Epub 2015 Jun 3 doi: 10.1111/petr.12519. [Epub ahead of print] PMID: 26037622
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
Yoshida Y, Miyata T, Matsumoto M, Shirotani-Ikejima H, Uchida Y, Ohyama Y, Kokubo T, Fujimura Y
PLoS One 2015;10(5):e0124655. Epub 2015 May 7 doi: 10.1371/journal.pone.0124655. PMID: 25951460Free PMC Article
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
Matsumoto T, Fan X, Ishikawa E, Ito M, Amano K, Toyoda H, Komada Y, Ohishi K, Katayama N, Yoshida Y, Matsumoto M, Fujimura Y, Ikejiri M, Wada H, Miyata T
Int J Hematol 2014 Nov;100(5):437-42. Epub 2014 Aug 19 doi: 10.1007/s12185-014-1655-2. [Epub ahead of print] PMID: 25135378

Therapy

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
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
Licht C, Greenbaum LA, Muus P, Babu S, Bedrosian CL, Cohen DJ, Delmas Y, Douglas K, Furman RR, Gaber OA, Goodship T, Herthelius M, Hourmant M, Legendre CM, Remuzzi G, Sheerin N, Trivelli A, Loirat C
Kidney Int 2015 May;87(5):1061-73. Epub 2015 Feb 4 doi: 10.1038/ki.2014.423. [Epub ahead of print] PMID: 25651368Free PMC Article
Ohta T, Urayama K, Tada Y, Furue T, Imai S, Matsubara K, Ono H, Sakano T, Jinno K, Yoshida Y, Miyata T, Fujimura Y
Pediatr Nephrol 2015 Apr;30(4):603-8. Epub 2014 Oct 16 doi: 10.1007/s00467-014-2975-4. [Epub ahead of print] PMID: 25318620
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. [Epub ahead of print] PMID: 24853860

Prognosis

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
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
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
Matsumoto T, Fan X, Ishikawa E, Ito M, Amano K, Toyoda H, Komada Y, Ohishi K, Katayama N, Yoshida Y, Matsumoto M, Fujimura Y, Ikejiri M, Wada H, Miyata T
Int J Hematol 2014 Nov;100(5):437-42. Epub 2014 Aug 19 doi: 10.1007/s12185-014-1655-2. [Epub ahead of print] PMID: 25135378
Nayer A, Asif A
Iran J Kidney Dis 2013 Sep;7(5):340-5. PMID: 24072143

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
Baskin E, Gulleroglu K, Kantar A, Bayrakci U, Ozkaya O
Pediatr Nephrol 2015 May;30(5):783-9. Epub 2014 Nov 11 doi: 10.1007/s00467-014-3003-4. [Epub ahead of print] PMID: 25384530
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. [Epub ahead of print] PMID: 24853860
Povey H, Vundru R, Junglee N, Jibani M
Clin Nephrol 2014 Nov;82(5):326-31. doi: 10.5414/CN107958. PMID: 23557793
Nayer A, Asif A
Iran J Kidney Dis 2013 Sep;7(5):340-5. PMID: 24072143

Recent systematic reviews

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. [Epub ahead of print] PMID: 23026949
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, 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. [Epub ahead of print] PMID: 18950913

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