Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review
- PDF / 1,434,161 Bytes
- 4 Pages / 595.276 x 790.866 pts Page_size
- 9 Downloads / 185 Views
CASE REPORT
Open Access
Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review Li Xin1,2, Ying Li1, Min Lei1, Jing Tian1, Zuocheng Yang1, Shoujin Kuang1, Yanjuan Tan1 and Tao Bo1*
Abstract Background: Neonatal thrombocytopenia is common in preterm and term neonates admitted to neonatal intensive care units. The etiology behind neonatal thrombocytopenia is complex. Inherited thrombocytopenia is rare and usually results from genetic mutations. Case presentation: Here we report a case of twins with severe inherited thrombocytopenia presented in the neonatal period who were shown to be compound heterozygotes for 2 UDP-N-acetylglucosamine 2-epimerase (GNE) gene mutations, c.1351C > T and c.1330G > T, of which c.1330G > T is a novel mutation. Conclusion: These two GNE mutations may help in the diagnosis and management of thrombocytopenia diagnosed in neonates. Keywords: Congenital thrombocytopenia, UDP-N-acetyl-glucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), Sialic acid, Neonates, Twins
Background Thrombocytopenia is defined as a platelet count < 150 × 109/L and is the most frequent hematological disorder observed in neonates admitted to the neonatal intensive care unit (NICU). This disorder has an incidence between 18 and 35% [1] It is known that reduced production of platelets induces thrombocytopenia, whose heritable forms are frequently caused by genes that regulate megakaryocytic differentiation and/or platelet production [2] With the development of diagnostic methods, neonatal thrombocytopenia, especially the congenital type, was linked to genetic mutations. UDP-N-acetyl-glucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), a key enzyme of sialic acid biosynthesis, initiates and regulates the biosynthesis of Nacetylneuraminic acid [3] Mutations in GNE have been * Correspondence: [email protected] 1 Department of Pediatrics, The Third Xiangya Hospital, Central South University, Tongzipo Road NO.138, Changsha 410013, China Full list of author information is available at the end of the article
identified in both hereditary inclusion body myopathy and Nonaka myopathy, which is also termed as distal myopathy with rimmed vacuoles (DMRV; MIM#605820) [2, 4] In recent years, the relationship between GNE mutations and congenital thrombocytopenia has been reported [3, 5–8] Here, we report a case of twin sisters who were shown to have novel combined heterozygous GNE mutations and diagnosed with refractory thrombocytopenia.
Case report A 22-day-old female newborn exhibited a platelet count of 1 × 109/L and showed detectable traces of blood in her stools. At the same time, her twin sister also had a platelet count of 6 × 109/L. The twins were born 37 3/7 weeks of gestational through cesarean section to a mother who denies unfavorable obstetric or medical histories. Moreover, there was no history of thrombocytopenia in the family. When the newborns were admitted to the NICU, vital signs and physical examinations appeared normal. Blood laboratory studies
© T
Data Loading...
