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












  • Successful Propranolol Treatment of a Kaposiform Hemangioendothelioma Apparently Resistant to Propranolol.

    abstract::A newborn with unresectable kaposiform hemangioendothelioma associated with Kasabach Merritt phenomenon, unresponsive to vincristine and prednisone, received second-line treatment with propranolol at a dose of 2 mg/kg/day, starting at 2 months of life and continued for 13 months. There was only slight reduction in tum...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Filippi L,Tamburini A,Berti E,Perrone A,Defilippi C,Favre C,Calvani M,Della Bona ML,la Marca G,Donzelli G

    更新日期:2016-07-01 00:00:00

  • Transverse myelitis as an unexpected complication following treatment with dinutuximab in pediatric patients with high-risk neuroblastoma: A case series.

    abstract::Immunotherapy with the anti-GD2 monoclonal antibody ch14.18, or dinutuximab, represents an important therapeutic advance in the treatment of pediatric high-risk neuroblastoma and is now considered part of standard of care in this patient population. To date, transverse myelitis as a result of dinutuximab therapy has n...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Ding YY,Panzer J,Maris JM,Castañeda A,Gomez-Chiari M,Mora J

    更新日期:2018-01-01 00:00:00

  • Long-term survivors of childhood cancer report quality of life and health status in parity with a comparison group.

    abstract:BACKGROUND:There is a need for more knowledge about how survivors of childhood cancer perceive their lives and what influence current health status has on their quality of life. The purpose was to describe this among a group of long-term survivors and among a comparison group. PROCEDURE:Telephone interviews were perfo...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Sundberg KK,Doukkali E,Lampic C,Eriksson LE,Arvidson J,Wettergren L

    更新日期:2010-08-01 00:00:00

  • The presence of central nervous system disease at diagnosis in pediatric acute myeloid leukemia does not affect survival: a Children's Oncology Group study.

    abstract:BACKGROUND:The presence of central nervous system (CNS) disease in pediatric acute myeloid leukemia (AML) is often thought to confer a worse prognosis. This study examined the outcome of children with AML who had CNS disease at diagnosis. METHODS:Patients enrolled on Children's Cancer Group protocols 2861, 2891, 2941,...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Johnston DL,Alonzo TA,Gerbing RB,Lange BJ,Woods WG

    更新日期:2010-09-01 00:00:00

  • Pharmacokinetic interaction between methotrexate and chloral hydrate.

    abstract::We report the case of a drug interaction between methotrexate (MTX) and chloral hydrate (CH) observed in a child treated for acute leukemia. Significantly slower MTX clearance and increased MTX exposure occurred on the first three courses of a high-dose chemotherapy when co-administered with CH despite normal renal fu...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Dao K,Ivanyuk A,Buclin T,Beck-Popovic M,Diezi M

    更新日期:2013-03-01 00:00:00

  • Delivery of radiation therapy in resource-limited settings: A pilot quality assessment study.

    abstract::Progress has been made in resource-limited countries in treating acute lymphoblastic leukemia, but advances in solid malignancies have been slower. Multidisciplinary care coordination is challenging, assessing adherence to guidelines through quality improvement initiatives is essential. We characterized deviations fro...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Power-Hays A,Friedrich P,Fernandez G,Cruz NA,Marcus K,Rodriguez-Galindo C,Collado L

    更新日期:2017-08-01 00:00:00

  • Clinical management of pediatric aggressive fibromatosis involving the mandible.

    abstract:BACKGROUND:Pediatric aggressive fibromatosis (AF) is a rare, benign tumor with locally infiltrative growth. Therefore, how to prevent reoccurrence while maintaining the mandible contour and continuity as much as possible is very important when the mandible is involved. PROCEDURE:We selected 10 pediatric patients with ...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Zhou Y,Zhang Z,Fu H,Qiu W,Wang L,He Y

    更新日期:2012-10-01 00:00:00

  • Long-term outcomes of children with extracutaneous juvenile xanthogranulomas in Japan.

    abstract:BACKGROUND:Juvenile xanthogranuloma (JXG) is the most common non-Langerhans cell histiocytosis in children. The mortality and morbidity of JXG with extracutaneous lesions remain unclear. METHODS:Data of patients aged < 18 years who were diagnosed with JXG between 2001 and 2010 were retrospectively collected through a ...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Maeda M,Morimoto A,Shioda Y,Asano T,Koga Y,Nakazawa Y,Kanegane H,Kudo K,Ohga S,Ishii E,Histiocytosis Study Group of the Japanese Society of Pediatric Hematology\/Oncology.

    更新日期:2020-07-01 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

  • Anal Canal Carcinoma in a Child With Disorders of Sex Development.

    abstract::Squamous cell carcinoma of the anal canal in children is rare. To date, the etiology and outcome of this condition have been not fully understood. Here, we report an 11-year-old child with anal canal cancer who had concomitant disorders of sex development. Radiotherapy followed by salvage surgery achieved disease-free...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Watanabe T,Horikawa R,Masaki H,Yoshioka T,Matsumoto K,Kanamori Y

    更新日期:2016-07-01 00:00:00

  • A new clinical score for disease activity in Langerhans cell histiocytosis.

    abstract:OBJECTIVE:To develop an objective tool for assessing disease activity in patients with Langerhans cell histiocytosis (LCH). METHOD:Scoring system was developed and applied to a database containing information on 612 patients. RESULTS:At diagnosis, the score distribution was highly asymmetrical: the score was between ...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Donadieu J,Piguet C,Bernard F,Barkaoui M,Ouache M,Bertrand Y,Ibrahim H,Emile JF,Hermine O,Tazi A,Genereau T,Thomas C

    更新日期:2004-12-01 00:00:00

  • A novel nonsense mutation in the MPL gene in congenital amegakaryocytic thrombocytopenia.

    abstract::Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare autosomal recessive disorder characterized by thrombocytopenia from failure of megakaryopoiesis. CAMT is one of the bone marrow failure syndromes, and the disease progression may involve other lineages leading to pancytopenia. The genetic background of CAMT ...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Chung HS,Koh KN,Kim HJ,Kim HJ,Lee KO,Park CJ,Chi HS,Kim SH,Seo JJ,Im HJ

    更新日期:2011-02-01 00:00:00

  • A meta-analysis of the neuropsychological effects of chemotherapy in the treatment of childhood cancer.

    abstract:BACKGROUND:Long-term neuropsychological deficits associated with pediatric cancers and the related treatments have been consistently reported. Whole brain cranial radiation therapy (CRT) is associated with neurocognitive impairment. As a result, physicians are reticent to use CRT in favor of systemic or intrathecal che...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章,meta分析


    authors: Pierson C,Waite E,Pyykkonen B

    更新日期:2016-11-01 00:00:00

  • Integration of ruxolitinib into dose-intensified therapy targeted against a novel JAK2 F694L mutation in B-precursor acute lymphoblastic leukemia.

    abstract::A 17-year-old girl with B-cell precursor acute lymphoblastic leukemia (BCP-ALL) with persistent minimal residual disease (MRD) who underwent standard chemotherapy was found to have a BCR-ABL1-like gene expression pattern. Genome sequencing revealed a JAK2 mutation not previously described in BCP-ALL and a potential th...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Mayfield JR,Czuchlewski DR,Gale JM,Matlawska-Wasowska K,Vasef MA,Nickl C,Pickett G,Ness SA,Winter SS

    更新日期:2017-05-01 00:00:00

  • Incidence of acute kidney injury among pediatric hematology/oncology patients receiving vancomycin in combination with piperacillin/tazobactam or cefepime.

    abstract::There is mounting evidence that combination of antibiotic therapy with vancomycin and piperacillin/tazobactam (pip/tazo) is associated with acute kidney injury (AKI). To determine whether vancomycin plus pip/tazo is associated with higher rates of AKI compared to vancomycin plus cefepime among pediatric hematology/onc...

    journal_title:Pediatric blood & cancer

    pub_type: 临床试验,杂志文章


    authors: Quach HT,Esbenshade AJ,Zhao Z,Banerjee R

    更新日期:2019-07-01 00:00:00

  • High burden of metastases and poor outcome in pelvic PNET.

    abstract::Data on prognostic factors in pelvic PNET are minimal. We analyzed patients with pelvic PNET treated between June 2003 and November 2011 for prognostic factors. Forty-eight (13%) of 374 patients with PNET were pelvic PNET with median age 14.5 years (range: 5-33); 31 (65%) had metastases. After median follow-up of 20.4...

    journal_title:Pediatric blood & cancer

    pub_type: 临床试验,杂志文章


    authors: Biswas B,Agarwala S,Rastogi S,Khan SA,Mohanti BK,Sharma DN,Pathy S,Bakhshi S

    更新日期:2013-09-01 00:00:00

  • Comparison of gallium and PET scans at diagnosis and follow-up of pediatric patients with Hodgkin lymphoma.

    abstract:BACKGROUND:Positron emission tomography (PET) and gallium scans facilitate diagnosis and staging, evaluation of response to therapy, and monitoring for relapse in Hodgkin lymphoma (HL), but have not been compared in pediatric HL. PROCEDURE:We performed concurrent PET and gallium scans on 44 pediatric HL patients at di...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Hines-Thomas M,Kaste SC,Hudson MM,Howard SC,Liu WA,Wu J,Kun LE,Shulkin BL,Krasin MJ,Metzger ML

    更新日期:2008-08-01 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

  • Initial testing (stage 1) of the cyclin dependent kinase inhibitor SCH 727965 (dinaciclib) by the pediatric preclinical testing program.

    abstract:BACKGROUND:SCH 727965 is a novel drug in clinical development that potently and selectively inhibits CDK1, CDK2, CDK5, and CDK9. The activity of SCH 727965 was evaluated against the PPTP's in vitro and in vivo panels. PROCEDURES:SCH 727965 was tested against the PPTP in vitro panel using 96 hours exposure at concentra...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Gorlick R,Kolb EA,Houghton PJ,Morton CL,Neale G,Keir ST,Carol H,Lock R,Phelps D,Kang MH,Reynolds CP,Maris JM,Billups C,Smith MA

    更新日期:2012-12-15 00:00:00

  • Multidisciplinary management of endocrinopathies and treatment-related toxicities in patients with Bloom syndrome and cancer.

    abstract::The treatment of malignancy in cancer predisposition syndromes that also confer exquisite sensitivity to standard chemotherapy and radiation regimens remains a challenge. Bloom syndrome is one such disorder that is caused by a defect in DNA repair, predisposing to the development of early-onset age-related medical con...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Fein Levy C,Presswala LS,Slomovic A,Stiefel J,Schulman-Rosenbaum R

    更新日期:2021-02-01 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

  • A novel G473A mutation in the glucose-6-phosphate dehydrogenase gene.

    abstract::Hereditary deficiency in human glucose-6-phosphate dehydrogenase (G6PD) is mostly caused by single nucleotide change in the G6PD gene which leads to single amino acid substitution. In 104 cases of Chinese children with G6PD deficiency, RT-PCR-DGGE (denaturing gradient gel electrophoresis) combined with DNA sequencing ...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Chen X,Yue L,Li C,Li C

    更新日期:2010-08-01 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

  • Parental Grief Following the Death of a Child from Cancer: The Ongoing Odyssey.

    abstract:BACKGROUND:The death of a child is a devastating event that results in profound grief and significant psychosocial and physical morbidities in parents. The parental grief journey is a complex phenomenon necessitating the utilization of newer models of bereavement with a focus on relationships and exploration of parents...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Snaman JM,Kaye EC,Torres C,Gibson D,Baker JN

    更新日期:2016-09-01 00:00:00

  • Hepatoblastoma in a child with neurofibromatosis type I.

    abstract::A major hallmark of NF1 is the development of benign tumors, including peripheral neurofibromas, plexiform neurofibromas, gliomas of the optic tract, other low grade gliomas, and pheochromocytomas. Hepatoblastoma have not been previously reported in patients with neurofibromatosis type 1. We present a case of a 9-mont...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Uçar C,Calişkan U,Toy H,Günel E

    更新日期:2007-09-01 00:00:00

  • Optic pathway gliomas.

    abstract::Optic pathway gliomas represent approximately 5% of all pediatric intracranial tumors. While these tumors are most frequently low grade astrocytomas, they follow a highly variable clinical course, and accordingly, there is much debate regarding their optimal management. Their propensity to occur in very young children...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章,评审


    authors: Jahraus CD,Tarbell NJ

    更新日期:2006-05-01 00:00:00

  • Aprepitant in adolescent patients for prevention of chemotherapy-induced nausea and vomiting: a randomized, double-blind, placebo-controlled study of efficacy and tolerability.

    abstract:BACKGROUND:The neurokinin-1 receptor antagonist aprepitant, plus a 5HT3 antagonist and corticosteroid is well-tolerated and effective in preventing chemotherapy-induced nausea and vomiting in adults but has not been formally assessed in adolescents. PROCEDURE:Patients age 11-19 years old receiving emetogenic chemother...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章,随机对照试验


    authors: Gore L,Chawla S,Petrilli A,Hemenway M,Schissel D,Chua V,Carides AD,Taylor A,Devandry S,Valentine J,Evans JK,Oxenius B,Adolescent Aprepitant in Cancer Study Group.

    更新日期:2009-02-01 00:00:00

  • Carboplatin Hypersensitivity Reactions in Pediatric Low Grade Glioma Are Protocol Specific and Desensitization Shows Poor Efficacy.

    abstract:BACKGROUND:The use of carboplatin for the treatment of pediatric low grade gliomas (PLGG) is often limited by the development of carboplatin hypersensitivity. Reported rates of carboplatin hypersensitivity reactions vary between 6% and 32% in these patients. Here we report the frequency of carboplatin hypersensitivity ...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Dodgshun AJ,Hansford JR,Cole T,Choo S,Sullivan MJ

    更新日期:2016-01-01 00:00:00

  • Information provision and information needs in adult survivors of childhood cancer.

    abstract:BACKGROUND:Knowledge about their past medical history is central for childhood cancer survivors to ensure informed decisions in their health management. Knowledge about information provision and information needs in this population is still scarce. We thus aimed to assess: (1) the information survivors reported to have...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Gianinazzi ME,Essig S,Rueegg CS,von der Weid NX,Brazzola P,Kuehni CE,Michel G,Swiss Paediatric Oncology Group (SPOG).

    更新日期:2014-02-01 00:00:00

  • A novel SAMD9 variant identified in patient with MIRAGE syndrome: Further defining syndromic phenotype and review of previous cases.

    abstract::We present here a case of MIRAGE syndrome due to novel variant (c.2318T>C) in the sterile α motif domain-containing protein 9 (SAMD9) gene. Previous reports have described the clinical phenotype, which includes myelodysplasia, recurrent infections, restriction of growth and development, adrenal insufficiency, genitour...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章,评审


    authors: Perisa MP,Rose MJ,Varga E,Kamboj MK,Spencer JD,Bajwa RPS

    更新日期:2019-07-01 00:00:00