Atypical hemolytic-uremic syndrome

A rare thrombotic microangiopathy disorder characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction.



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Narrow down the case reports



Total: 238 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
1
(26.3%)
25925370
(4423495)
Plasma resistant atypical hemolytic uremic syndrome associated with a CFH mutation treated with eculizumab: a case report.
Sevinc M, Basturk T, Sahutoglu T, Sakaci T, Koc Y, Ahbap E, Akgol C, Kara E, Brocklebank V, Goodship TH, Kavanagh D, Unsal A.
J Med Case Rep. 2015;9:92.
Proteinuria Periorbital edema
CFH
Adult Antibodies, Monoclonal, Humanized Atypical Hemolytic Uremic Syndrome Complement Inactivating Agents Females Homo sapiens Male Mutation Plasma Exchange Renal Dialysis Thrombotic Microangiopathies
2
(23.3%)
31228952
Diclofenac-induced thrombotic thrombocytopenic purpura with concomitant complement dysregulation: a case report and review of the literature.
Lara JP, Santana Y, Gaddam M, Ali A, Malik S, Khaja M.
J Med Case Rep. 2019;13(1):190.
Skin rash Back pain
Adult Anti-Inflammatory Agents, Non-Steroidal Complement System Proteins Drug Hypersensitivity Syndrome Homo sapiens Male Plasmapheresis Purpura, Thrombotic Thrombocytopenic
3
(22.8%)
30103768
(6205155)
Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report.
De Simone L, Capirchio L, Roperto RM, Romagnani P, Sacchini M, Donati MA, de Martino M.
Ital J Pediatr. 2018;44(1):90.
Hypertension Plantar edema
Amino Acid Metabolism, Inborn Errors Atypical Hemolytic Uremic Syndrome Child, Preschool Homo sapiens Homocystinuria Male Pulmonary Hypertension
4
(20.4%)
11843173
Initial presentation of hemolytic uremic syndrome in a boy with systemic lupus erythematosus.
Tsao CH, Hsueh S, Huang JL.
Rheumatol Int. 2002;21(4):161-4.
Petechiae Knee pain
Combination Drug Therapy Differential Diagnosis Hemolytic-Uremic Syndrome Homo sapiens Lupus Erythematosus, Systemic Male Severity of Illness Index
5
(17.5%)
27646857
First-Line, Early and Long-Term Eculizumab Therapy in Atypical Hemolytic Uremic Syndrome: A Case Series in Pediatric Patients.
Yuksel S, Evrengul H, Ozcakar ZB, Becerir T, Yalcn N, Korkmaz E, Ozaltin F.
Paediatr Drugs. 2016;18(6):413-420.
Vesicoureteral reflux Scarring
C3
Antibodies, Monoclonal, Humanized Atypical Hemolytic Uremic Syndrome Child, Preschool Females Homo sapiens Infant Male
5
(17.5%)
21722608
Hemolytic uremic syndrome and rhabdomyolysis in a patient with succinate coenzyme Q reductase (complex II) deficiency.
Micheletti MV, Lavoratti G, Gasperini S, Donati MA, Pela I.
Clin Nephrol. 2011;76(1):68-73.
Thrombocytopenia Rhabdomyolysis
Child, Preschool Electron Transport Complex II Hemolytic-Uremic Syndrome Homo sapiens Male Mitochondrial Diseases Rhabdomyolysis
7
(4.0%)
31249236
Does severe ADAMTS13 deficiency in thrombotic microangiopathy rule out complement-mediated atypical hemolytic uremic syndrome.
Arumugam V, Bhowmick R, Agarwal I, Arumadi M.
Saudi J Kidney Dis Transpl. 2019;30(3):701-705.
Nephrotic syndrome
ADAMTS13 Protein Atypical Hemolytic Uremic Syndrome Child Complement System Proteins Differential Diagnosis Fatal Outcome Females Genetic Predisposition to Disease Homo sapiens Mutation Phenotype Predictive Value of Tests Purpura, Thrombotic Thrombocytopenic
7
(4.0%)
31064333
Haemolytic uraemic syndrome associated with non shiga toxin-producing Escherichia coli bacteraemia: a case report.
Bally S, Fourcade J, Fremeaux-Bacchi V.
BMC Nephrol. 2019;20(1):157.
Prostatitis
Atypical Hemolytic Uremic Syndrome Bacteremia Biopsy Confusion Escherichia coli Escherichia coli Infections Hallucinations Hemorrhoids Homo sapiens Kidney Male Middle Aged Postoperative Complications Renal Dialysis Seizures
7
(4.0%)
31019819
Severe Vitamin B12 Deficiency in Pregnancy Mimicking HELLP Syndrome.
Govindappagari S, Nguyen M, Gupta M, Hanna RM, Burwick RM.
Case Rep Obstet Gynecol. 2019;2019:4325647.
Thrombocytopenia
CBLIF
7
(4.0%)
30983177
[HELLP syndrome and hemolytic uremic syndrome during pregnancy: two disease entities, same causation. Case report and literature review].
Mancini A, Ardissino G, Angelini P, Giancaspro V, La Raia E, Nisi M, Proscia A, Tarantino G, Vitale O, D'elia F.
G Ital Nefrol. 2019;36(2):.
Proteinuria
ADAMTS13 HP
Adult Antibodies, Monoclonal, Humanized Atypical Hemolytic Uremic Syndrome Complement Inactivating Agents Females HELLP Syndrome Homo sapiens Immune System Diseases Postpartum Period Pregnancy Renal Dialysis
        

Phenotype(s) retrieved from Orphanet

    Total: 13

HPO ID Term Frequency
HP:0000093 Proteinuria Very frequent (99-80%)
HP:0000790 Hematuria Very frequent (99-80%)
HP:0001871 Abnormality of blood and blood-forming tissues Very frequent (99-80%)
HP:0001873 Thrombocytopenia Very frequent (99-80%)
HP:0001919 Acute kidney injury Very frequent (99-80%)
HP:0001937 Microangiopathic hemolytic anemia Very frequent (99-80%)
HP:0001939 Abnormality of metabolism/homeostasis Very frequent (99-80%)
HP:0045040 Abnormal lactate dehydrogenase activity Very frequent (99-80%)
HP:0004431 Complement deficiency Frequent (79-30%)
HP:0005339 Abnormality of complement system Frequent (79-30%)
HP:0005356 Decreased serum complement factor I Frequent (79-30%)
HP:0005416 Decreased serum complement factor B Frequent (79-30%)
HP:0040229 Decreased level of thrombomodulin Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 55

HPO ID Term # of case reports
HP:0001873 Thrombocytopenia 23
HP:0005575 Hemolytic-uremic syndrome 12
HP:0001937 Microangiopathic hemolytic anemia 11
HP:0000822 Hypertension 10
HP:0002014 Diarrhea 8
HP:0001919 Acute kidney injury 7
HP:0000099 Glomerulonephritis 5
HP:0001878 Hemolytic anemia 5
HP:0002090 Pneumonia 5
HP:0000793 Membranoproliferative glomerulonephritis 3
HP:0000969 Edema 3
HP:0001903 Anemia 3
HP:0002488 Acute leukemia 3
HP:0025085 Bloody diarrhea 3
HP:0000123 Nephritis 2
HP:0000602 Ophthalmoplegia 2
HP:0000651 Diplopia 2
HP:0001250 Seizures 2
HP:0001945 Fever 2
HP:0012120 Methylmalonic aciduria 2
HP:0012636 Retinal vein occlusion 2
HP:0025239 Subhyaloid hemorrhage 2
HP:0000083 Renal insufficiency 1
HP:0000093 Proteinuria 1
HP:0000096 Glomerulosclerosis 1
HP:0000112 Nephropathy 1
HP:0000488 Retinopathy 1
HP:0000618 Blindness 1
HP:0000979 Purpura 1
HP:0001433 Hepatosplenomegaly 1
HP:0001658 Myocardial infarction 1
HP:0001876 Pancytopenia 1
HP:0001880 Eosinophilia 1
HP:0001882 Leukopenia 1
HP:0001889 Megaloblastic anemia 1
HP:0001896 Reticulocytopenia 1
HP:0001953 Diabetic ketoacidosis 1
HP:0002027 Abdominal pain 1
HP:0002157 Azotemia 1
HP:0002243 Protein-losing enteropathy 1
HP:0002527 Falls 1
HP:0002583 Colitis 1
HP:0002586 Peritonitis 1
HP:0004936 Venous thrombosis 1
HP:0005521 Disseminated intravascular coagulation 1
HP:0011834 Moyamoya phenomenon 1
HP:0012378 Fatigue 1
HP:0025322 Venous occlusion 1
HP:0031864 Bacteremia 1
HP:0040276 Adenocarcinoma of the colon 1
HP:0040319 Dark urine 1
HP:0100502 Vitamin B12 deficiency 1
HP:0100520 Oliguria 1
HP:0100601 Eclampsia 1
HP:0100758 Gangrene 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID