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Vol. 46. Núm. S3.
X Eurasian Hematology Oncology Congress
Páginas 24 (maio 2024)
Vol. 46. Núm. S3.
X Eurasian Hematology Oncology Congress
Páginas 24 (maio 2024)
PP 18
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SEVERE CONGENİTAL NEUTROPENİA WİTH GLUCOSE-6-PHOSPHATASE CATALYTİC SUBUNİT 3 (G6PC3) DEFİCENCY OR DURSUN SYNDROME DİAGNOSED AT ADULTHOOD
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Yunus CATMA1, Elif Sakci1, Tugba Kalayci2, Sevgi Kalayoglu Besisik1
1 Division of Hematology, Department of Internal Medicine, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey
2 Department of Internal Medicine, Division of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Turkey
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Vol. 46. Núm S3

X Eurasian Hematology Oncology Congress

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Case report

Severe congenital neutropenia is rare and usually diagnosed at childhood. G6PC3 deficiency emerge by mutation in glucose metabolism controlling genes as a syndromic variant. We here present a young adult case with unexplained neutropenia after kidney transplantation for FMF related AA amyloidosis. He had facial dismorphism, growth retardation, and atrial septal defect. Parents were relatives and he had recurrent infection history. Genetic screening revealed G6PC3 gene mutation in patient.

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Hematology, Transfusion and Cell Therapy
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