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Atypical hemolytic-uremic syndrome 3(AHUS3)

MedGen UID:
414542
Concept ID:
C2752039
Disease or Syndrome; Finding
Synonyms: AHUS, SUSCEPTIBILITY TO, 3; AHUS3; HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
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 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
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): CFI (4q25)
OMIM®: 612923
Orphanet: ORPHA93580

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.  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 such as exercise and the DASH diet 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.
Recurrent meningitis
MedGen UID:
152879
Concept ID:
C0746495
Disease or Syndrome
An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis.
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
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.
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding

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

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. [Epub ahead of print] PMID: 26163426
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
Schalk G, Kirschfink M, Wehling C, Gastoldi S, Bergmann C, Hoppe B, Weber LT
Pediatr Nephrol 2015 Jun;30(6):1039-42. Epub 2015 Mar 10 doi: 10.1007/s00467-015-3078-6. [Epub ahead of print] PMID: 25752761
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. [Epub ahead of print] PMID: 25733390
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

Diagnosis

Sperati CJ, Moliterno AR
Hematol Oncol Clin North Am 2015 Jun;29(3):541-59. Epub 2015 Apr 4 doi: 10.1016/j.hoc.2015.02.002. [Epub ahead of print] PMID: 26043391
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
Schalk G, Kirschfink M, Wehling C, Gastoldi S, Bergmann C, Hoppe B, Weber LT
Pediatr Nephrol 2015 Jun;30(6):1039-42. Epub 2015 Mar 10 doi: 10.1007/s00467-015-3078-6. [Epub ahead of print] PMID: 25752761
Tsai HM
Transfus Med Rev 2014 Oct;28(4):187-97. Epub 2014 Sep 3 doi: 10.1016/j.tmrv.2014.08.004. [Epub ahead of print] PMID: 25280590
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

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
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. [Epub ahead of print] PMID: 26015278
Schalk G, Kirschfink M, Wehling C, Gastoldi S, Bergmann C, Hoppe B, Weber LT
Pediatr Nephrol 2015 Jun;30(6):1039-42. Epub 2015 Mar 10 doi: 10.1007/s00467-015-3078-6. [Epub ahead of print] PMID: 25752761
Sengul Samanci N, Ayer M, Ergen A, Ozturk S
Transfus Apher Sci 2015 Jun;52(3):314-6. Epub 2015 Jan 12 doi: 10.1016/j.transci.2015.01.006. [Epub ahead of print] PMID: 25634788
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

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
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. [Epub ahead of print] PMID: 26015278
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
Kavanagh D, Pappworth IY, Anderson H, Hayes CM, Moore I, Hunze EM, Bennaceur K, Roversi P, Lea S, Strain L, Ward R, Plant N, Nailescu C, Goodship TH, Marchbank KJ
Clin J Am Soc Nephrol 2012 Mar;7(3):417-26. Epub 2012 Jan 5 doi: 10.2215/CJN.05750611. [Epub ahead of print] PMID: 22223611Free PMC Article

Clinical prediction guides

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
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
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
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
Povey H, Vundru R, Junglee N, Jibani M
Clin Nephrol 2014 Nov;82(5):326-31. doi: 10.5414/CN107958. PMID: 23557793

Recent systematic reviews

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, Ridley GF, Hodson EM, Craig JC
Cochrane Database Syst Rev 2009 Jan 21;(1):CD003595. doi: 10.1002/14651858.CD003595.pub2. PMID: 19160220
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
McLigeyo SO
East Afr Med J 1999 Mar;76(3):148-53. PMID: 10442115

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