ABSTRACT
Pyruvate kinase (PK) is a key enzyme of anaerobic glycolysis. The genetic heterogeneity of PK deficiency (PKD) is high, and over 400 unique variants have been identified. Twenty-nine patients who had been diagnosed as PKD genetically in seven distinct paediatric haematology departments were evaluated. Fifteen of 23 patients (65.2%) had low PK levels. The PK:hexokinase ratio had 100% sensitivity for PKD diagnosis, superior to PK enzyme assay. Two novel intronic variants (c.695-1G>A and c.694+43C>T) have been described. PKD should be suspected in patients with chronic non-spherocytic haemolytic anaemia, even if enzyme levels are falsely normal. Total PKLR gene sequencing is necessary for the characterization of patients with PKD and for genetic counselling.
Subject(s)
Anemia, Hemolytic, Congenital Nonspherocytic , Introns , Pyruvate Kinase , Pyruvate Metabolism, Inborn Errors , Humans , Pyruvate Kinase/deficiency , Pyruvate Kinase/genetics , Male , Female , Pyruvate Metabolism, Inborn Errors/genetics , Child , Child, Preschool , Anemia, Hemolytic, Congenital Nonspherocytic/genetics , Turkey , Infant , Adolescent , MutationABSTRACT
BACKGROUND: Data on the risk factors and outcomes for pediatric patients with SARS-CoV-2 infection (COVID-19) following hematopoietic stem cell transplantation (HSCT) are limited. OBJECTIVES: The study aimed to analyze the clinical signs, risk factors, and outcomes for ICU admission and mortality in a large pediatric cohort who underwent allogeneic HSCT prior to COVID-19 infection. METHOD: In this nationwide study, we retrospectively reviewed the data of 184 pediatric HSCT recipients who had COVID-19 between March 2020 and August 2022. RESULTS: The median time from HSCT to COVID-19 infection was 209.0 days (IQR, 111.7-340.8; range, 0-3845 days). The most common clinical manifestation was fever (58.7%). While most patients (78.8%) had asymptomatic/mild disease, the disease severity was moderate in 9.2% and severe and critical in 4.4% and 7.6%, respectively. The overall mortality was 10.9% (n: 20). Deaths were attributable to COVID-19 in nine (4.9%) patients. Multivariate analysis revealed that lower respiratory tract disease (LRTD) (OR, 23.20, p: .001) and lymphopenia at diagnosis (OR, 5.21, p: .006) were risk factors for ICU admission and that HSCT from a mismatched donor (OR, 54.04, p: .028), multisystem inflammatory syndrome in children (MIS-C) (OR, 31.07, p: .003), and LRTD (OR, 10.11, p: .035) were associated with a higher risk for COVID-19-related mortality. CONCLUSION: While COVID-19 is mostly asymptomatic or mild in pediatric transplant recipients, it can cause ICU admission in those with LRTD or lymphopenia at diagnosis and may be more fatal in those who are transplanted from a mismatched donor and those who develop MIS-C or LRTD.
Subject(s)
COVID-19 , Hematopoietic Stem Cell Transplantation , Humans , COVID-19/epidemiology , COVID-19/therapy , COVID-19/mortality , Hematopoietic Stem Cell Transplantation/adverse effects , Child , Male , Female , Retrospective Studies , Adolescent , Turkey/epidemiology , Child, Preschool , Risk Factors , SARS-CoV-2 , Infant , Transplantation, Homologous , Severity of Illness IndexABSTRACT
Bloom syndrome (BS) is a rare autosomal recessive inherited disorder. Patients with BS have photosensitivity, telangiectatic facial erythema, and stunted growth. They usually have mild microcephaly, and distinctive facial features such as a narrow, slender face, micrognathism, and a prominent nose. Kostmann disease (KD) is a subgroup of severe congenital neutropenias. The diagnosis of severe congenital neutropenia is based on clinical symptoms, bone marrow findings, and genetic mutation. Here, we report a female patient with a triangular face, nasal prominence, and protruding ears presenting with recurrent infections and severe neutropenia. Molecular genetic testing revealed a compound heterozygous variant in the HCLS-1-associated protein X-1 gene [(c.130_131insA) p.(trp44*), c.430 dup(p.Val144fs)] and a new homozygous variant in Bloom Syndrome RecQ like helicase gene [c.2074+2T>C p.(?)]. She was diagnosed with both BS and KD. To the best of our knowledge, this is the first case of coexisting BS and KD in a patient ever reported.
Subject(s)
Bloom Syndrome , Neutropenia , Neutropenia/congenital , Humans , Female , Bloom Syndrome/complications , Bloom Syndrome/genetics , Bloom Syndrome/diagnosis , Congenital Bone Marrow Failure Syndromes , Neutropenia/complications , Neutropenia/genetics , MutationABSTRACT
This study aimed to evaluate the viscoelastic properties of lower-extremity muscles in pediatric hemophilia (FVIII-IX) patients. The study included 20 severe- and moderate-type right-dominant hemophilia patients diagnosed with hemophilia A-B and 20 healthy children. Viscoelastic properties (tone, stiffness, elasticity) of the lower-extremity muscles were measured using a MyotonPRO device. The physical characteristics of the pediatric hemophilia patients (mean age: 11.9 ± 3.95 years) and the control group (mean age: 12.6 ± 3.41 years) were found to be similar. A difference was observed only in the elasticity of the right vastus lateralis (p < 0.05) by means of the viscoelastic properties of the lower-extremity muscles. The results were similar in other muscle groups (p > 0.05). The dominant-side vastus lateralis muscle elasticity (the ability of the muscle to regain its original shape after contraction or removal of an external force) of hemophilia patients was found to be lower compared to healthy children. The fact that 45% of hemarthroses occur in the knee joint and that recurrent bleeding may affect the flexibility of the vastus lateralis, which is the main muscle within the quadriceps muscle group and responsible for the stabilization of the patella, can be associated with the study results.