Pediatric Hematology Oncology Journal最新文献

{"title":"Unmasking Evans syndrome: A rare presentation of Schimke immune-osseous dysplasia","authors":"Swathi Krishna,&nbsp;Purva Kanvinde,&nbsp;Ritika Khurana,&nbsp;Minnie Bodhanwala,&nbsp;Sangeeta Mudaliar","doi":"10.1016/j.phoj.2024.08.003","DOIUrl":"10.1016/j.phoj.2024.08.003","url":null,"abstract":"<div><h3>Background</h3><p>Evans syndrome is an autoimmune condition that manifests as two or more autoimmune cytopenia. We present a case of Evans syndrome diagnosed with an underlying skeletal dysplasia; Schimke immune-osseous dysplasia (SIOD). The condition is characterized by spondyloepiphyseal dysplasia, progressive nephropathy, and T-cell immunodeficiency with cytopenia. Notably, our patient did not exhibit any signs of renal involvement.</p></div><div><h3>Case report</h3><p>A five-and-a-half-year-old female child presented with a short history of bleeding manifestations along with a history of poor weight and height gain. She was subsequently diagnosed with Evans syndrome secondary to an underlying SMARCAL1 mutation, which could be well controlled with oral steroids.</p></div><div><h3>Conclusion</h3><p>SIOD is a rare multisystem disorder affecting the skeletal, renal, immune, and vascular systems. Autoimmune cytopenia was the chief presentation of our patient. Such entities should be suspected in patients with growth failure, bone deformities, and hematological involvement. Early genetic testing will help to reduce disease-related comorbidities and aid in rationalizing treatment strategies.</p></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 4","pages":"Pages 250-254"},"PeriodicalIF":0.0,"publicationDate":"2024-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2468124524000652/pdfft?md5=329bfa59485f181b7f3426969d2b1d7d&pid=1-s2.0-S2468124524000652-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142040810","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Autoimmune hemolytic anemia in children","authors":"Dinesh Chandra ,&nbsp;Varun Capoor ,&nbsp;Ayoniza Maitri ,&nbsp;Rahul Naithani","doi":"10.1016/j.phoj.2024.08.002","DOIUrl":"10.1016/j.phoj.2024.08.002","url":null,"abstract":"<div><p>Autoimmune hemolytic anaemia (AIHA) is an uncommon cause of antibody-induced hemolytic anemia in children. It is divided into three categories: warm AIHA, cold antibody AIHA and paroxysmal cold hemoglobinuria. The diagnostic work-up typically begins with a peripheral smear and a direct antiglobulin test. Further diagnostic approaches and pathogenesis of all three entities are discussed. Clinical trials are lacking for AIHA in children. First-line therapy for warm AIHA is corticosteroids and for cold antibody AIHA is rituximab. Data on other therapeutic agents is reviewed. Supportive care is an important aspect, particularly in cold AIHA and paroxysmal cold hemoglobinuria. Issues related to blood transfusion due to antibodies including the least incompatible blood are discussed. Tables and figures provide an overview of pathology, diagnosis and diagnostic algorithm.</p></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 4","pages":"Pages 255-264"},"PeriodicalIF":0.0,"publicationDate":"2024-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2468124524000640/pdfft?md5=b8c73190f8308a49ebba5d1c6a8f475b&pid=1-s2.0-S2468124524000640-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142049562","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unusual cause of haemolytic anaemia: Glucose phosphate isomerase deficiency","authors":"Mukesh Dhankar,&nbsp;Piali Mandal,&nbsp;Robin Singh","doi":"10.1016/j.phoj.2024.08.001","DOIUrl":"10.1016/j.phoj.2024.08.001","url":null,"abstract":"<div><h3>Introduction</h3><p>Glucose phosphate isomerase (GPI) deficiency is a rare autosomal recessive disorder that causes hereditary nonspherocytic hemolytic anemia (HNSHA). It is caused by homozygous or compound heterozygous mutation of the GPI gene on chromosome 19q13. Approximately 57 GPI mutations have been reported at the molecular level.</p></div><div><h3>Case report</h3><p>A 4-years and 6-month-old boy presented with progressive pallor along with multiple blood transfusion requirements since four months of age. He had hemolytic anemia associated with macrocytosis, reticulocytosis, neutropenia, and hyperbilirubinemia. Whole-exome sequencing showed that he carried a specific variant in the GPI gene, denoted as c.1040G &gt; A p.Arg347His, which is a homozygous autosomal recessive inherited pathogenic mutation found in exon 12.</p></div><div><h3>Conclusion</h3><p>This report highlights the clinical features and molecular etiology of an Indian patient with GPI deficiency, a rare cause of hereditary hemolytic anemia. A specific variant in the GPI gene was identified through whole-exome sequencing, which is linked to HNSHA. Patients with GPI deficiency require medical management during childhood to monitor for potential complications and prevent hemolytic crises. With optimal management, patients with GPI deficiency can lead a relatively healthy life with normal expectations of growth and development.</p></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 4","pages":"Pages 283-286"},"PeriodicalIF":0.0,"publicationDate":"2024-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2468124524000639/pdfft?md5=fb06472d52e70f8c690372f8d883447d&pid=1-s2.0-S2468124524000639-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142272663","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Autosomal dominant multicentric infantile myofibromatosis: A case report","authors":"Jessica Justus Kurian,&nbsp;Megan R. Lyle","doi":"10.1016/j.phoj.2024.07.007","DOIUrl":"10.1016/j.phoj.2024.07.007","url":null,"abstract":"<div><h3>Background</h3><p>Infantile myofibromatosis (IM) is a rare disorder of benign fibrous tumors, where severity and prognosis depend on the location of tumors, particularly if visceral organs are affected. Most cases of IM are sporadic. However, some familial cases of multicentric IM have been reported, primarily involving genes <em>PDGFRB</em> and <em>NOTCH3</em>.</p></div><div><h3>Case report</h3><p>We describe the clinical features and clinical course of two African American siblings with autosomal dominant multicentric IM caused by a novel mutation in the platelet-derived growth factor receptor β (<em>PDGFRB</em>) gene, c.1679C &gt; T, resulting in p.Pro560Leu. This mutation was inherited from their mother, who was an asymptomatic carrier.</p></div><div><h3>Conclusion</h3><p>The <em>PDGFRB</em> gene mutation, c.1679C &gt; T, is a novel mutation that causes multicentric IM with an autosomal dominant inheritance pattern. It is difficult to determine whether chemotherapy regimens are effective or whether tumor development and recession proceed along their natural course despite medical intervention.</p></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 4","pages":"Pages 231-234"},"PeriodicalIF":0.0,"publicationDate":"2024-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2468124524000627/pdfft?md5=7eeff7e765809b5297309cd0b8a33079&pid=1-s2.0-S2468124524000627-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141985161","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Voxelotor (GBT440) in pediatric sickle cell disease: A review","authors":"Sri Lakshmi Jamalapur ,&nbsp;Alexander K. Glaros ,&nbsp;Yaddanapudi Ravindranath","doi":"10.1016/j.phoj.2024.07.006","DOIUrl":"10.1016/j.phoj.2024.07.006","url":null,"abstract":"<div><p>Sickle cell disease (SCD) was first described in 1910 in African Americans, and the mutant hemoglobin S (HbS) was identified by electrophoresis in 1948. Sickle cell disease is the first genetic disease to be molecularly defined - a single point mutation in the β-globin gene (GAG→GTG) results in substitution of valine for glutamic acid at amino acid residue 7 (including the starting methionine). Pharmacological intervention to correct the defect at a molecular/protein level has proven complex. The only established curative therapy is hematopoietic stem cell transplantation, with recent gene therapy approvals providing hope for the same. Herein, we discuss voxelotor, a drug designed to reverse the hemoglobin polymerization defect caused by the β7Glu &gt; Val substitution in the hemoglobin molecule.</p></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 4","pages":"Pages 244-249"},"PeriodicalIF":0.0,"publicationDate":"2024-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2468124524000615/pdfft?md5=163222d9d19982400dd9ad3c5544cafe&pid=1-s2.0-S2468124524000615-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141993396","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Homozygous hemoglobin Lepore disease in a child: A case report","authors":"Rimjhim Sonowal ,&nbsp;Aditi Das ,&nbsp;Atanu Kumar Dutta ,&nbsp;Nihar Ranjan Mishra","doi":"10.1016/j.phoj.2024.07.005","DOIUrl":"10.1016/j.phoj.2024.07.005","url":null,"abstract":"<div><h3>Background</h3><p>Hemoglobin Lepore is a rare variant of structurally abnormal hemoglobin. Homozygous hemoglobin Lepore is even more rare.</p></div><div><h3>Case report</h3><p>We describe a case of homozygous hemoglobin Lepore in a 4-year 8-month-old boy. He presented with a thalassemia intermedia-like presentation. His diagnosis was confirmed by family screening with high-performance liquid chromatography (HPLC) and genetic testing.</p></div><div><h3>Conclusion</h3><p>Homozygous hemoglobin Lepore can present as thalassemia intermedia. It can be a diagnostic dilemma if only patient's HPLC is reported. Genetic testing and family screening aid to identify and confirm this uncommon variant of hemoglobin.</p></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 4","pages":"Pages 219-222"},"PeriodicalIF":0.0,"publicationDate":"2024-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2468124524000603/pdfft?md5=1a40fd5d2d1c2b285d296dae0c25bec3&pid=1-s2.0-S2468124524000603-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141851082","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinico-mutational profile and the impact of splenectomy in children with glucose-6-phosphate isomerase deficiency","authors":"Abhilasha Sampagar ,&nbsp;Abhishek Chandira ,&nbsp;Swapnil Pattanshetti ,&nbsp;Santosh Kurbet ,&nbsp;Ashwini Doddannavar ,&nbsp;Krishna Prasanna","doi":"10.1016/j.phoj.2024.07.003","DOIUrl":"10.1016/j.phoj.2024.07.003","url":null,"abstract":"<div><h3>Background</h3><p>There is a lack of literature on the role of splenectomy in hemolytic anemias due to glucose-6-phosphate isomerase (GPI) deficiency. GPI deficiency is a rare red blood cell (RBC) enzymopathy of the glycolytic pathway. Most present with severe disease requiring frequent transfusions. In this study, we report the effect of splenectomy in the world's largest cohort of GPI deficiency patients. The study aimed to describe the clinical, mutational, and laboratory parameters of patients with GPI deficiency. A comparison of the transfusion requirement pre- and post-splenectomy is also included.</p></div><div><h3>Material and methods</h3><p>The ambispective study was performed from 2017 to 2023. Patients with congenital non-spherocytic hemolytic anemia (CNSHA) were screened for GPI deficiency. Detailed history, including demographic, clinical data, and transfusion details, were noted. Hematological parameters and RBC enzyme activity were estimated using spectrophotometry. The genetic study was done using restriction fragment length polymorphism, and confirmation was obtained through Sanger's sequencing. Patients were followed up after splenectomy.</p></div><div><h3>Results</h3><p>Eighteen patients were diagnosed with GPI deficiency. About 3/4th (14/18; 77.7 %) had significant hepatosplenomegaly. Median serum ferritin levels were 890 ng/ml. Seven patients were on oral iron chelation. The nutritional status assessed as per the Indian Academy of Pediatrics growth charts revealed significant growth retardation. All the patients had severe anemia (mean Hb: 6.4 g/dl) and macrocytosis (mean MCV: 129.2 fl). Laboratory features of hemolysis were evident with reticulocytosis, raised serum lactate dehydrogenase, and indirect bilirubin. The mean GPI enzyme activity was 28.75 IU/g Hb.</p><p>Ten (55.5 %) patients underwent splenectomy at a median age of 7 years. Five remain transfusion-free post-splenectomy at a median follow-up of 54 months. Other 5 had a significant reduction in transfusion requirement post-splenectomy (p &lt; 0.05). Post-splenectomy, the mean hemoglobin levels increased from 6.2 to 8.1 gm%, and the mean reticulocyte counts reduced from 7.4 % to 4.8 %. Fifteen of 18 had the pathogenic c.1040G &gt; A(p.Arg347His) homozygous mutation.</p></div><div><h3>Conclusion</h3><p>The study demonstrates the benefit of splenectomy in patients with GPI deficiency.</p></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 4","pages":"Pages 274-278"},"PeriodicalIF":0.0,"publicationDate":"2024-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2468124524000585/pdfft?md5=9bfdf0ecc214e6d95f9b5bd354586b5a&pid=1-s2.0-S2468124524000585-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141844640","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Management of hypersplenism in hemolytic anemias","authors":"Amita Mahajan","doi":"10.1016/j.phoj.2024.07.004","DOIUrl":"10.1016/j.phoj.2024.07.004","url":null,"abstract":"<div><p>The clinical course of patients with chronic hemolytic anemia can be complicated by the development of splenomegaly and consequent hypersplenism. This may warrant management by medical or surgical methods. Furthermore, in some patients, splenic manipulation may be warranted in the absence of hypersplenism, spleen being the primary site of red cell destruction. Wherever possible, splenectomy is avoided or deferred in view of the life-long risks of infection and thrombosis associated with this procedure. Optimal management in hemolytic anemia, therefore, incorporates prevention of hypersplenism as one of the key treatment goals.</p></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 4","pages":"Pages 223-227"},"PeriodicalIF":0.0,"publicationDate":"2024-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2468124524000597/pdfft?md5=8bb3f5b374070096de5653f7a9b28066&pid=1-s2.0-S2468124524000597-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141853475","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Response to comment on ‘causal factors influencing the quality of treatment and survival in wilms tumor: A retrospective investigation’","authors":"Syed Ibrahim Bukhari,&nbsp;Zahra Saeed Ahmed,&nbsp;Javeria Saeed,&nbsp;Kiran Hilal,&nbsp;Zehra Fadoo,&nbsp;Naureen Mushtaq,&nbsp;Bilal Mazhar Qureshi,&nbsp;Sadaf Altaf","doi":"10.1016/j.phoj.2024.07.002","DOIUrl":"10.1016/j.phoj.2024.07.002","url":null,"abstract":"","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 4","pages":"Pages 228-230"},"PeriodicalIF":0.0,"publicationDate":"2024-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2468124524000573/pdfft?md5=d8b4bde1ae0d4083d72be399b1319f4f&pid=1-s2.0-S2468124524000573-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141694453","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comment on ‘Causal factors influencing the quality of treatment and survival in Wilms tumor: A retrospective investigation’","authors":"Yogesh Kumar Sarin","doi":"10.1016/j.phoj.2024.07.001","DOIUrl":"10.1016/j.phoj.2024.07.001","url":null,"abstract":"","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 4","pages":"Pages 265-266"},"PeriodicalIF":0.0,"publicationDate":"2024-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2468124524000561/pdfft?md5=641404e5336c06d9ba8a525e05d7b06a&pid=1-s2.0-S2468124524000561-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141710179","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}