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Partial complement factor H deficiency

MedGen UID:
870268
•Concept ID:
C4024708
•
Finding
HPO: HP:0008290

Definition

A partial reduction in level of the complement component Factor H in circulation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPartial complement factor H deficiency

Recent clinical studies

Etiology

Characterization of a factor H mutation that perturbs the alternative pathway of complement in a family with membranoproliferative GN.
Wong EK, Anderson HE, Herbert AP, Challis RC, Brown P, Reis GS, Tellez JO, Strain L, Fluck N, Humphrey A, Macleod A, Richards A, Ahlert D, Santibanez-Koref M, Barlow PN, Marchbank KJ, Harris CL, Goodship TH, Kavanagh D
J Am Soc Nephrol 2014 Nov;25(11):2425-33. Epub 2014 Apr 10 doi: 10.1681/ASN.2013070732. PMID: 24722444Free PMC Article

Diagnosis

Eculizumab therapy in a patient with dense-deposit disease associated with partial lipodystropy.
Ozkaya O, Nalcacioglu H, Tekcan D, Genc G, Meydan BC, Ozdemir BH, Baysal MK, Keceligil HT
Pediatr Nephrol 2014 Jul;29(7):1283-7. Epub 2014 Jan 26 doi: 10.1007/s00467-013-2748-5. PMID: 24464478

Therapy

Efficacy of GalNAc C3 siRNAs in factor H-deficient mice with C3 glomerulopathy.
Zanchi C, Locatelli M, Cerullo D, Aumiller V, Corna D, Rottoli D, Schubert S, Noris M, Tomasoni S, Remuzzi G, Zoja C, Benigni A
Mol Immunol 2024 Apr;168:10-16. Epub 2024 Feb 17 doi: 10.1016/j.molimm.2024.02.010. PMID: 38368725
Eculizumab therapy in a patient with dense-deposit disease associated with partial lipodystropy.
Ozkaya O, Nalcacioglu H, Tekcan D, Genc G, Meydan BC, Ozdemir BH, Baysal MK, Keceligil HT
Pediatr Nephrol 2014 Jul;29(7):1283-7. Epub 2014 Jan 26 doi: 10.1007/s00467-013-2748-5. PMID: 24464478
Attempted treatment of factor H deficiency by liver transplantation.
Cheong HI, Lee BS, Kang HG, Hahn H, Suh KS, Ha IS, Choi Y
Pediatr Nephrol 2004 Apr;19(4):454-8. Epub 2004 Feb 24 doi: 10.1007/s00467-003-1371-2. PMID: 14986080

Prognosis

Attempted treatment of factor H deficiency by liver transplantation.
Cheong HI, Lee BS, Kang HG, Hahn H, Suh KS, Ha IS, Choi Y
Pediatr Nephrol 2004 Apr;19(4):454-8. Epub 2004 Feb 24 doi: 10.1007/s00467-003-1371-2. PMID: 14986080

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