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Atypical hemolytic-uremic syndrome with DGKE deficiency

MedGen UID:
1826167
•Concept ID:
C5679921
•
Disease or Syndrome
Synonyms: aHUS with DGKE deficiency; atypical hemolytic-uremic syndrome with DGKE deficiency; atypical HUS with DGKE deficiency; D-HUS with DGKE deficiency; Hemolytic uremic syndrome with DGKE deficiency; Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency; hemolytic-uremic syndrome without diarrhea with DGKE deficiency; hemolytic-uremic syndrome without diarrhoea with DGKE deficiency; HUS with DGKE deficiency
SNOMED CT: Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (1269225005); Hemolytic uremic syndrome with DGKE deficiency (1269225005)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Autosomal recessive inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0018159
Orphanet: ORPHA357008

Definition

A rare genetic hemolytic uremic syndrome (HUS) characterized by infantile onset of relapsing episodes of microangiopathic hemolytic anemia, thrombocytopenia and acute kidney injury. The episodes are often preceded by viral infections. Affected individuals typically present persistent hypertension, hematuria and proteinuria (sometimes in the nephrotic range) and develop chronic kidney disease with age. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAtypical hemolytic-uremic syndrome with DGKE deficiency

Professional guidelines

PubMed

Genetic and Protein Structural Evaluation of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.
Perkins SJ
Adv Chronic Kidney Dis 2020 Mar;27(2):120-127.e4. doi: 10.1053/j.ackd.2020.03.002. PMID: 32553244

Recent clinical studies

Etiology

Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.
Wortmann SB, Espeel M, Almeida L, Reimer A, Bosboom D, Roels F, de Brouwer AP, Wevers RA
J Inherit Metab Dis 2015 Jan;38(1):99-110. Epub 2014 Sep 2 doi: 10.1007/s10545-014-9759-7. PMID: 25178427

Diagnosis

Concurrent Cobalamin C and Plasminogen Deficiencies in a Patient with Chronic Thrombotic Microangiopathy.
Dirim AB, Safak S, Balci MC, Ozyavuz P, Garayeva N, Tiryaki TO, Oto OA, Ozluk Y, Kilicaslan I, Solakoglu S, Artan AS, Yazici H, Turkmen A, Ozturk S
Nephron 2024;148(1):54-62. Epub 2023 Aug 23 doi: 10.1159/000533417. PMID: 37611544
A novel missense mutation in complement factor I predisposes patients to atypical hemolytic uremic syndrome: a case report.
Wei X, Li J, Zhan X, Tu L, Huang H, Wang Y
J Med Case Rep 2022 Mar 4;16(1):101. doi: 10.1186/s13256-022-03312-y. PMID: 35241161Free PMC Article
Genetic and Protein Structural Evaluation of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.
Perkins SJ
Adv Chronic Kidney Dis 2020 Mar;27(2):120-127.e4. doi: 10.1053/j.ackd.2020.03.002. PMID: 32553244
Glucose-6-Phosphate Dehydrogenase Deficiency Mimicking Atypical Hemolytic Uremic Syndrome.
Walsh PR, Johnson S, Brocklebank V, Salvatore J, Christian M, Kavanagh D
Am J Kidney Dis 2018 Feb;71(2):287-290. Epub 2017 Dec 13 doi: 10.1053/j.ajkd.2017.08.007. PMID: 29248304
Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.
Wortmann SB, Espeel M, Almeida L, Reimer A, Bosboom D, Roels F, de Brouwer AP, Wevers RA
J Inherit Metab Dis 2015 Jan;38(1):99-110. Epub 2014 Sep 2 doi: 10.1007/s10545-014-9759-7. PMID: 25178427

Therapy

Glucose-6-Phosphate Dehydrogenase Deficiency Mimicking Atypical Hemolytic Uremic Syndrome.
Walsh PR, Johnson S, Brocklebank V, Salvatore J, Christian M, Kavanagh D
Am J Kidney Dis 2018 Feb;71(2):287-290. Epub 2017 Dec 13 doi: 10.1053/j.ajkd.2017.08.007. PMID: 29248304

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