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Thrombotic Microangiopathy with Complement Factor H Gene Mutations Unassociated with Atypical Hemolytic Uremic Syndrome.

Oymak Y, Karapınar TH, Ay Y, Özcan E, Müminoğlu N, Aydın Köker S, Töret E, Berdeli A, Serdaroğlu E, Vergin C - Turk J Haematol (2015)

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Affiliation: Dr. Behçet Uz Children's Hospital, Clinic of Hematology, İzmir, Turkey Phone: +90 532 355 42 28 E-mail: yesimoymak@hotmail.com.

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As for the blood smear and other TMA symptoms, first plasmapheresis was started, which lasted 20 weeks... Four months after stopping eculizumab, the patient’s levels of hemoglobin, thrombocytes, reticulocytes, haptoglobin and LDH were 11 g/dL, 150,000/mm3, 0.87%, 46.4 mg/dL (reference range: 41-165 mg/dL) and 385 U/L, respectively... CFH gene mutations are the most commonly observed genetic changes in patients with aHUS and they are responsible in 20%-30% of the patients... Eighty-seven CFH gene mutations associated with aHUS have been described to date... The CFH gene mutation that we identified in our case has been associated with membranoproliferative glomerulonephritis (MPGN) and age-related macular degeneration (AMD)... The location of the p.His402Tyr mutation in the functional domain of the protein suggests that it might have a pathogenic effect in patients with aHUS... In conclusion CFH gene analysis was performed to confirm whether the patient had aHUS or not... However, we have found CFH gene mutations that are not specific for aHUS... Also p.His402Tyr mutation may cause TMA with a milder clinic feature than that of other aHUS specific CFH gene mutations.

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Sequencing data of complement factor H gene mutations of patient. A) Homozygous p.His402Tyr mutation. B) Homozygous p.Ala307Ala mutation. C) Heterozygous p.Ala473Ala mutation.
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f1: Sequencing data of complement factor H gene mutations of patient. A) Homozygous p.His402Tyr mutation. B) Homozygous p.Ala307Ala mutation. C) Heterozygous p.Ala473Ala mutation.

Mentions: DNA sequencing analysis of the patient revealed a homozygous p.His402Tyr mutation due to a p.1204 C>T change in exon 9, a homozygous p.Ala307Ala mutation due to a p921A>C change in exon 7 and a heterozygous p.Ala473Ala mutation due to a p.1419G>A change in exon 10 of the CFH gene (Figure 1).


Thrombotic Microangiopathy with Complement Factor H Gene Mutations Unassociated with Atypical Hemolytic Uremic Syndrome.

Oymak Y, Karapınar TH, Ay Y, Özcan E, Müminoğlu N, Aydın Köker S, Töret E, Berdeli A, Serdaroğlu E, Vergin C - Turk J Haematol (2015)

Sequencing data of complement factor H gene mutations of patient. A) Homozygous p.His402Tyr mutation. B) Homozygous p.Ala307Ala mutation. C) Heterozygous p.Ala473Ala mutation.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4563206&req=5

f1: Sequencing data of complement factor H gene mutations of patient. A) Homozygous p.His402Tyr mutation. B) Homozygous p.Ala307Ala mutation. C) Heterozygous p.Ala473Ala mutation.
Mentions: DNA sequencing analysis of the patient revealed a homozygous p.His402Tyr mutation due to a p.1204 C>T change in exon 9, a homozygous p.Ala307Ala mutation due to a p921A>C change in exon 7 and a heterozygous p.Ala473Ala mutation due to a p.1419G>A change in exon 10 of the CFH gene (Figure 1).

View Article: PubMed Central - PubMed

Affiliation: Dr. Behçet Uz Children's Hospital, Clinic of Hematology, İzmir, Turkey Phone: +90 532 355 42 28 E-mail: yesimoymak@hotmail.com.

AUTOMATICALLY GENERATED EXCERPT
Please rate it.

As for the blood smear and other TMA symptoms, first plasmapheresis was started, which lasted 20 weeks... Four months after stopping eculizumab, the patient’s levels of hemoglobin, thrombocytes, reticulocytes, haptoglobin and LDH were 11 g/dL, 150,000/mm3, 0.87%, 46.4 mg/dL (reference range: 41-165 mg/dL) and 385 U/L, respectively... CFH gene mutations are the most commonly observed genetic changes in patients with aHUS and they are responsible in 20%-30% of the patients... Eighty-seven CFH gene mutations associated with aHUS have been described to date... The CFH gene mutation that we identified in our case has been associated with membranoproliferative glomerulonephritis (MPGN) and age-related macular degeneration (AMD)... The location of the p.His402Tyr mutation in the functional domain of the protein suggests that it might have a pathogenic effect in patients with aHUS... In conclusion CFH gene analysis was performed to confirm whether the patient had aHUS or not... However, we have found CFH gene mutations that are not specific for aHUS... Also p.His402Tyr mutation may cause TMA with a milder clinic feature than that of other aHUS specific CFH gene mutations.

No MeSH data available.