Endocrine Dysfunction in Diamond-Blackfan Anemia (DBA): A Report from the DBA Registry (DBAR).


BACKGROUND:Diamond-Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome. The mainstays of treatment involve chronic red cell transfusions, long-term glucocorticoid therapy, and stem cell transplantation. Systematic data concerning endocrine function in DBA are limited. We studied patients in the DBA Registry (DBAR) of North America to assess the prevalence of various endocrinopathies. PROCEDURE:In a pilot study, retrospective data were collected for 12 patients with DBA. Subsequently, patients with DBA aged 1-39 years were recruited prospectively. Combined, 57 patients were studied; 38 chronically transfused, 12 glucocorticoid-dependent, and seven in remission. Data were collected on anthropometric measurements, systematic screening of pituitary, thyroid, parathyroid, adrenal, pancreatic, and gonadal function, and ferritin levels. Descriptive statistics were tabulated and group differences were assessed. RESULTS:Fifty-three percent of patients had ≥ 1 endocrine disorder, including adrenal insufficiency (32%), hypogonadism (29%), hypothyroidism (14%), growth hormone dysfunction (7%), diabetes mellitus (2%), and/or diabetes insipidus (2%). Ten of the 33 patients with available heights had height standard deviation less than -2. Low 25-hydroxy vitamin D (25(OH)D) levels were present in 50%. A small proportion also had osteopenia, osteoporosis, or hypercalciuria. Most with adrenal insufficiency were glucocorticoid dependent; other endocrinopathies were more common in chronically transfused patients. CONCLUSIONS:Endocrine dysfunction is common in DBA, as early as the teenage years. Although prevalence is highest in transfused patients, patients taking glucocorticoids or in remission also have endocrine dysfunction. Longitudinal studies are needed to better understand the etiology and true prevalence of these disorders.


Pediatr Blood Cancer


Pediatric blood & cancer


Lahoti A,Harris YT,Speiser PW,Atsidaftos E,Lipton JM,Vlachos A




Has Abstract


2016-02-01 00:00:00












  • Treatment of children with refractory anemia: the Japanese Childhood MDS Study Group trial (MDS99).

    abstract:BACKGROUND:Although hematopoietic stem cell transplantation (HSCT) is offered as a curative therapy for pediatric myelodysplastic syndrome (MDS), it may cause severe complications and mortality. Several reports have shown the efficacy of immunosuppressive therapy (IST) in adult patients with refractory anemia (RA), but...

    journal_title:Pediatric blood & cancer

    pub_type: 临床试验,杂志文章,多中心研究


    authors: Hasegawa D,Manabe A,Yagasaki H,Ohtsuka Y,Inoue M,Kikuchi A,Ohara A,Tsuchida M,Kojima S,Nakahata T,Japanese Childhood MDS Study Group.

    更新日期:2009-12-01 00:00:00

  • Clinical phenotype and genetic analysis of RPS19, RPL5, and RPL11 genes in Greek patients with Diamond Blackfan Anemia.

    abstract:BACKGROUND:Diamond Blackfan Anemia (DBA) is a rare congenital, bone marrow failure syndrome characterized by normochromic macrocytic anemia, reticulocytopenia and absence or insufficiency of erythroid precursors in normocellular bone marrow, frequently associated with somatic malformations. Here, we present our finding...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Delaporta P,Sofocleous C,Stiakaki E,Polychronopoulou S,Economou M,Kossiva L,Kostaridou S,Kattamis A

    更新日期:2014-12-01 00:00:00

  • If only I could turn back time-Regret in bereaved parents.

    abstract:INTRODUCTION:Regret about loss is one of the most intense types of regret experienced in life. Little is known about the bereavement regret of parents whose child has died of cancer. Although knowledge about parents' experiences after their child's death is vital for supporting these families, parents' regret is mostly...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Sim CW,Heuse S,Weigel D,Kendel F

    更新日期:2020-06-01 00:00:00

  • Absence of platelet recovery following Helicobacter pylori eradication in childhood chronic idiopathic thrombocytopenic purpura: a multi-center randomized controlled trial.

    abstract:OBJECTIVE:To investigate the effect of Helicobacter pylori eradication on platelet recovery in childhood chronic idiopathic thrombocytopenic purpura (ITP). PATIENTS AND METHODS:A multi-center randomized controlled trial was conducted. Patients aged 4-18 years, diagnosed with chronic ITP, defined by platelet count belo...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章,多中心研究,随机对照试验


    authors: Treepongkaruna S,Sirachainan N,Kanjanapongkul S,Winaichatsak A,Sirithorn S,Sumritsopak R,Chuansumrit A

    更新日期:2009-07-01 00:00:00

  • Clinicopathologic analysis of spindle cell/sclerosing rhabdomyosarcoma.

    abstract:BACKGROUND:Clinical characteristics and optimal treatment strategies for spindle cell/sclerosing rhabdomyosarcoma (ssRMS) have not been well established because of its rarity. PROCEDURE:Retrospective re-evaluation of sarcoma specimens (1997-2014) identified 16 ssRMSs (median age 20 years, range 7-39 years). Clinicopat...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Yasui N,Yoshida A,Kawamoto H,Yonemori K,Hosono A,Kawai A

    更新日期:2015-06-01 00:00:00

  • Folate pathway polymorphisms predict deficits in attention and processing speed after childhood leukemia therapy.

    abstract:BACKGROUND:Neurocognitive impairment occurs in 20-40% of childhood acute lymphoblastic leukemia (ALL) survivors, possibly mediated by folate depletion and homocysteine elevation following methotrexate treatment. We evaluated the relationship between folate pathway polymorphisms and neurocognitive impairment after child...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Kamdar KY,Krull KR,El-Zein RA,Brouwers P,Potter BS,Harris LL,Holm S,Dreyer Z,Scaglia F,Etzel CJ,Bondy M,Okcu MF

    更新日期:2011-09-01 00:00:00

  • The associations between maternal factors during pregnancy and the risk of childhood acute lymphoblastic leukemia: A meta-analysis.

    abstract:BACKGROUND:Although genetic and environmental factors are considered to be the main causes of acute lymphoblastic leukemia, the associations between maternal factors during pregnancy and the childhood ALL is still unclear. PROCEDURE:In this study, meta-analysis was used. Medline, PubMed, and Web of Science were search...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章,meta分析


    authors: Yan K,Xu X,Liu X,Wang X,Hua S,Wang C,Liu X

    更新日期:2015-07-01 00:00:00

  • Minor anomalies in children with hematological malignancies.

    abstract:BACKGROUND:Despite the presence of reports on correlation between major congenital defects and cancer, very few studies have investigated the frequency of minor anomalies in childhood malignancy. The aim of this study was to determine the prevalence of minor anomalies in children with hematological malignancy. PROCEDU...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Citak FE,Citak EC,Akkaya E,Kosan B,Ezer U,Kurekci AE

    更新日期:2011-02-01 00:00:00

  • Evaluation of cytarabine against Ewing sarcoma xenografts by the pediatric preclinical testing program.

    abstract::Treatment with the nucleoside analog cytarabine has been shown to mimic changes in gene expression associated with downregulation of the EWS-FLI1 oncogene in Ewing sarcoma cell lines, selectively inhibit their growth in vitro, and cause tumor regression in athymic nude mice. For this report cytarabine was studied in v...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Houghton PJ,Morton CL,Kang M,Reynolds CP,Billups CA,Favours E,Payne-Turner D,Tucker C,Smith MA

    更新日期:2010-12-01 00:00:00

  • Pilomyxoid astrocytoma treated successfully with vemurafenib.

    abstract::The BRAF V600E missense mutation is known to be present in a subset of central nervous system tumors. We report a patient with a BRAF V600E mutated pilomyxoid astrocytoma who failed multiple conventional chemotherapy regimens. Treatment with vemurafenib, a molecularly targeted therapy against the mutant BRAF V600E kin...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Skrypek M,Foreman N,Guillaume D,Moertel C

    更新日期:2014-11-01 00:00:00

  • Familial retinoblastoma in developing countries.

    abstract:BACKGROUND:Although screening for familial retinoblastoma has been shown to be beneficial we suspected that such screening programs may be less than optimal in developing countries (DC). METHODS:Retrospective cohort study comparing patients with familial retinoblastoma from five centers in DC (Argentina, Brazil, Turke...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Chantada GL,Dunkel IJ,Qaddoumi I,Antoneli CB,Totah A,Canturk S,Nawaiseh I,Fandiño A,Pífano I,Peksayar G,Ribeiro KB,Abramson DH

    更新日期:2009-09-01 00:00:00

  • Second cancer risk in childhood cancer survivors treated with intensity-modulated radiation therapy (IMRT).

    abstract:BACKGROUND:Treatment with radiotherapy (RT) is associated with an increased risk of second malignant neoplasms (SMNs) in childhood cancer survivors; it is unclear how treatment with intensity-modulated radiation therapy (IMRT) impacts this risk. We provide the first report of SMN risk in a cohort of childhood cancer su...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Casey DL,Friedman DN,Moskowitz CS,Hilden PD,Sklar CA,Wexler LH,Wolden SL

    更新日期:2015-02-01 00:00:00

  • Optic pathway glioma: long-term visual outcome in children without neurofibromatosis type-1.

    abstract:BACKGROUND:Little is known about the visual outcome of children affected by an optic pathway glioma (OPG). PROCEDURES:We evaluated the long-term visual outcome of 32 consecutive children affected by OPG without neurofibromatosis type-1 referred to the Pediatric Department of Padua University and managed according to s...

    journal_title:Pediatric blood & cancer

    pub_type: 临床试验,杂志文章


    authors: Campagna M,Opocher E,Viscardi E,Calderone M,Severino SM,Cermakova I,Perilongo G

    更新日期:2010-12-01 00:00:00

  • Implementation of an educational intervention to optimize self-management and transition readiness in young adults with sickle cell disease.

    abstract:BACKGROUND:The transition from the pediatric setting to adult care is a well-described period of morbidity and mortality for persons with sickle cell disease (SCD). We sought to measure the feasibility and effectiveness of providing skill-based educational handouts on improving self-management and transition readiness ...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Calhoun CL,Abel RA,Pham HA,Thompson S,King AA

    更新日期:2019-07-01 00:00:00

  • Low expression of HLA-DRA, HLA-DPA1, and HLA-DPB1 is associated with poor prognosis in pediatric adrenocortical tumors (ACT).

    abstract:BACKGROUND:Low expression of HLA class II antigens has been associated with more aggressive disease in several human malignancies including adult adrenocortical tumors (ACT), but their clinical relevance in pediatric ACT needs to be investigated. PROCEDURE:This study analyzed the expression profile of three class II h...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Leite FA,Lira RC,Fedatto PF,Antonini SR,Martinelli CE Jr,de Castro M,Neder L,Ramalho LN,Tucci S Jr,Mastelaro MJ,Seidinger AL,Cardinalli IA,Yunes JA,Brandalise SR,Tone LG,Scrideli CA

    更新日期:2014-11-01 00:00:00

  • Psychological resilience in adolescent and young adult survivors of lower extremity bone tumors.

    abstract:BACKGROUND:The psychosocial outcomes of young adult survivors of childhood bone tumors are not well known. This study: (a) examined perceived social support (SS) and benefit-finding (BF) with respect to surgical intervention, gender, and age; (b) compared SS and psychological outcomes to normative values; and (c) exami...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Teall T,Barrera M,Barr R,Silva M,Greenberg M

    更新日期:2013-07-01 00:00:00

  • Homestead together: Pediatric palliative care telehealth support for rural children with cancer during home-based end-of-life care.

    abstract:BACKGROUND:Children with terminal cancer and their families describe a preference for home-based end-of-life care. Inadequate support outside of the hospital is a limiting factor in home location feasibility, particularly in rural regions lacking pediatric-trained hospice providers. METHODS:The purpose of this longitu...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Weaver MS,Shostrom VK,Neumann ML,Robinson JE,Hinds PS

    更新日期:2021-02-01 00:00:00

  • Psychological distress in long-term survivors of solid tumors diagnosed in childhood: a report from the childhood cancer survivor study.

    abstract:PURPOSE:To evaluate and compare psychological distress in long-term survivors of solid tumors diagnosed in childhood and their siblings, and to identify significant correlates of psychological distress. PROCEDURE:Adult survivors (2,778) of solid tumors diagnosed in childhood and 2,925 siblings completed a long-term fo...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章,多中心研究


    authors: Zebrack BJ,Zevon MA,Turk N,Nagarajan R,Whitton J,Robison LL,Zeltzer LK

    更新日期:2007-07-01 00:00:00

  • Mycophenolate mofetil administered every 8 hours in combination with tacrolimus is efficacious in the prophylaxis of acute graft versus host disease in childhood, adolescent, and young adult allogeneic stem cell transplantation recipients.

    abstract:BACKGROUND:The optimal dose and schedule of mycophenolate mofetil (MMF) in pediatric allogeneic stem cell transplant recipients remains to be determined. We previously reported safety and pharmacokinetics of MMF at 900 mg/m2 q6h dosing. This study was conducted to investigate the efficacy of tacrolimus plus q8h MMF dos...

    journal_title:Pediatric blood & cancer

    pub_type: 临床试验,杂志文章


    authors: Militano O,Ozkaynak MF,Mehta B,van deVen C,Hamby C,Cairo MS

    更新日期:2018-08-01 00:00:00

  • Pharmacologic inhibition of epigenetic modification reveals targets of aberrant promoter methylation in Ewing sarcoma.

    abstract:BACKGROUND:Ewing sarcoma (ES), a highly aggressive tumor of children and young adults, is characterized most commonly by an 11;22 chromosomal translocation that fuses EWSR1 located at 22q12 with FLI1, coding for a member of the ETS family of transcription factors. Although genetic changes in ES have been extensively re...

    journal_title:Pediatric blood & cancer

    pub_type: 临床试验,杂志文章,多中心研究


    authors: Nestheide S,Bridge JA,Barnes M,Frayer R,Sumegi J

    更新日期:2013-09-01 00:00:00

  • Use of RNA interference to elucidate the effect of MYCN on cell cycle in neuroblastoma.

    abstract:BACKGROUND:MYCN amplification marks poor prognosis in neuroblastoma (NB) tumors. In evaluating the mechanisms by which retinoic acid (RA) or nerve growth factor (NGF) decrease cell number in MYCN amplified NB cells, we have identified a number of proteins whose expression either decreases (E2F, CDC2, CDK6, cyclin depen...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Woo CW,Tan F,Cassano H,Lee J,Lee KC,Thiele CJ

    更新日期:2008-02-01 00:00:00

  • Intensity-modulated radiation therapy with dose-painting for pediatric sarcomas with pulmonary metastases.

    abstract:BACKGROUND:We examined patterns of failure in pediatric patients with thoracic sarcoma and pulmonary metastases treated with intensity-modulated radiation therapy with dose-painting (DP-IMRT). PROCEDURE:Eleven pediatric patients, five with Ewing sarcoma family tumors (ESFT) and six with rhabdomyosarcoma (RMS), with pr...

    journal_title:Pediatric blood & cancer

    pub_type: 临床试验,杂志文章


    authors: Yang JC,Wexler LH,Meyers PA,Happersett L,La Quaglia MP,Wolden SL

    更新日期:2013-10-01 00:00:00

  • Blood transfusion therapy is feasible in a clinical trial setting in children with sickle cell disease and silent cerebral infarcts.

    abstract:BACKGROUND:Silent cerebral infarcts are both morbid and progressive in children with sickle cell disease (SCD). While blood transfusion therapy is effective primary and secondary stroke prevention, the efficacy and acceptance of blood transfusion therapy for children with silent cerebral infarcts is unknown. The overal...

    journal_title:Pediatric blood & cancer

    pub_type: 临床试验,杂志文章


    authors: King AA,Noetzel M,White DA,McKinstry RC,Debaun MR

    更新日期:2008-03-01 00:00:00

  • Changes in bone mineral density in survivors of childhood acute lymphoblastic leukemia.

    abstract:BACKGROUND:There is little information about factors modulating bone mineral density (BMD) in survivors of childhood acute lymphoblastic leukemia (ALL). PROCEDURE:We analyzed data from 57 survivors (26 male, 52 Caucasian) who underwent two serial quantitative computed tomography (QCT) studies of BMD. Using multiple li...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Kaste SC,Rai SN,Fleming K,McCammon EA,Tylavsky FA,Danish RK,Rose SR,Sitter CD,Pui CH,Hudson MM

    更新日期:2006-01-01 00:00:00

  • Imatinib has adverse effect on growth in children with chronic myeloid leukemia.

    abstract:BACKGROUND:Long-term adverse effects of Imatinib in children with chronic myeloid leukemia (CML) are uncertain. The aim was to study the effect of imatinib on growth in children with CML. PROCEDURE:Children ≤13 years of age at diagnosis were enrolled retrospectively, from 2004 to 2011, from a single center in India. P...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Bansal D,Shava U,Varma N,Trehan A,Marwaha RK

    更新日期:2012-09-01 00:00:00

  • Circulating tumor DNA in neuroblastoma.

    abstract::As a sympathetic nervous system-derived tumor, aggressive neuroblastoma (NB) is currently attracting interest from researchers seeking diagnostic and prognostic markers via less invasive procedures. The analysis of circulating tumor DNA (ctDNA) in peripheral blood can provide genetic information from multiple tumor le...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章,评审


    authors: Wei M,Ye M,Dong K,Dong R

    更新日期:2020-10-01 00:00:00

  • Nausea and vomiting in children and adolescents receiving intrathecal methotrexate: A prospective, observational study.

    abstract:BACKGROUND:The prevalence of nausea and vomiting after receipt of intrathecal methotrexate (IT-MTX) in pediatric oncology patients is unknown. METHODS:Patients (4-18 years) about to receive IT-MTX were eligible to participate in this prospective, observational study. Patients received antiemetics as prescribed by thei...

    journal_title:Pediatric blood & cancer

    pub_type: 评论,杂志文章


    authors: Flank J,Nadeem K,Moledina S,Khanna M,Schindera C,Punnett A,Dupuis LL

    更新日期:2017-10-01 00:00:00

  • Prognostic impact of diagnostic and treatment delays in children with osteosarcoma.

    abstract:BACKGROUND:The aim of this study is to evaluate the relationship between the latency to diagnosis (LD) and the time to completion of chemotherapy (TCC) with clinical outcomes in children with osteosarcoma. METHODS:We performed a retrospective analysis of all patients who received treatment for osteosarcoma in two tert...

    journal_title:Pediatric blood & cancer

    pub_type: 临床试验,杂志文章,多中心研究


    authors: Vasquez L,Silva J,Chavez S,Zapata A,Diaz R,Tarrillo F,Maza I,Sialer L,García J

    更新日期:2020-04-01 00:00:00

  • The role of myeloablative chemotherapy with autologous hematopoietic cell rescue in central nervous system germ cell tumors.

    abstract::This review of the experience of high dose chemotherapy in patients with recurrent or refractory intracranial germ cell tumor confirms that sustained tumor control can be achieved with this modality both in germinoma and non-germinomatous germ cell tumors. Data from cooperative groups in Europe and North America sugge...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章,评审


    authors: Bouffet E

    更新日期:2010-04-01 00:00:00

  • Symptom interval in pediatric patients with solid tumors: adolescents are at greater risk of late diagnosis.

    abstract:BACKGROUND:The awareness that adolescents can have cancer is probably insufficient, not only among teenagers and their families, but also among physicians, and adolescent patients are reportedly often referred to qualified cancer institutes after a considerable delay. PROCEDURE:A prospective series of 425 patients (28...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Veneroni L,Mariani L,Lo Vullo S,Favini F,Catania S,Vajna de Pava M,Massimino M,Ferrari A

    更新日期:2013-04-01 00:00:00