当前位置： SCI文献检索 > Orphanet Journal of Rare Diseases期刊下所有文献 > Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia Registry.

Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia Registry.

Abstract：

BACKGROUND:The purpose of this study was to describe the natural history of severe congenital neutropenia (SCN) in 14 patients with G6PC3 mutations and enrolled in the French SCN registry. METHODS:Among 605 patients included in the French SCN registry, we identified 8 pedigrees that included 14 patients with autosomal recessive G6PC3 mutations. RESULTS:Median age at the last visit was 22.4 years. All patients had developed various comordibities, including prominent veins (n = 12), cardiac malformations (n = 12), intellectual disability (n = 7), and myopathic syndrome with recurrent painful cramps (n = 1). Three patients developed Crohn's disease, and five had chronic diarrhea with steatorrhea. Neutropenia was profound (<0.5 × 109/l) in almost all cases at diagnosis and could marginally fluctuate. The bone marrow smears exhibited mild late-stage granulopoeitic defects. One patient developed myelodysplasia followed by acute myelogenous leukemia with translocation (18, 21) at age 14 years, cured by chemotherapy and hematopoietic stem cell transplantation. Four deaths occurred, including one from sepsis at age 5, one from pulmonary late-stage insufficiency at age 19, and two from sudden death, both at age 30 years. A new homozygous mutation (c.249G > A /p.Trp83*) was detected in one pedigree. CONCLUSIONS:Severe congenital neutropenia with autosomal recessive G6PC3 mutations is associated with considerable clinical heterogeneity. This series includes the first described case of malignancy in this neutropenia.

journal_name

Orphanet J Rare Dis

journal_title

Orphanet journal of rare diseases

authors

Desplantes C,Fremond ML,Beaupain B,Harousseau JL,Buzyn A,Pellier I,Roques G,Morville P,Paillard C,Bruneau J,Pinson L,Jeziorski E,Vannier JP,Picard C,Bellanger F,Romero N,de Pontual L,Lapillonne H,Lutz P,Chantelot CB

doi

10.1186/s13023-014-0183-8

subject

Has Abstract

pub_date

2014-12-10 00:00:00

pages

183

issn

1750-1172

pii

s13023-014-0183-8

journal_volume

9

pub_type

杂志文章

相关文献

Orphanet Journal of Rare Diseases文献大全
  • Oculocutaneous albinism.

    abstract：:Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes. The prevalence of all forms of albinism varies considerably worldwide and has been estimated at approximately 1/17,000, suggesting that about 1 in 70 ...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章,评审

    doi：10.1186/1750-1172-2-43

    authors： Grønskov K,Ek J,Brondum-Nielsen K

    更新日期：2007-11-02 00:00:00

  • Quantitative assessment of left ventricular longitudinal function and myocardial deformation in Duchenne muscular dystrophy patients.

    abstract：BACKGROUND:Duchenne muscular dystrophy (DMD) manifests in males mainly by skeletal muscle impairment, but also by cardiac dysfunction. The assessment of the early phases of cardiac involvement using echocardiography is often very difficult to perform in these patients. The aim of the study was to use cardiac magnetic r...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章

    doi：10.1186/s13023-021-01704-9

    authors： Panovský R,Pešl M,Máchal J,Holeček T,Feitová V,Juříková L,Masárová L,Pešlová E,Opatřil L,Mojica-Pisciotti ML,Kincl V

    更新日期：2021-01-30 00:00:00

  • Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders.

    abstract：BACKGROUND:Many of the genetic childhood disorders leading to death in the pre- or neonatal period or during early childhood follow autosomal recessive modes of inheritance and bear specific challenges for genetic counseling and prenatal diagnostics. Parents are carriers but clinically unaffected, and diseases are rare...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章

    doi：10.1186/s13023-018-0763-0

    authors： Komlosi K,Diederich S,Fend-Guella DL,Bartsch O,Winter J,Zechner U,Beck M,Meyer P,Schweiger S

    更新日期：2018-01-26 00:00:00

  • Abdominal fat pad biopsies exhibit good diagnostic accuracy in patients with suspected transthyretin amyloidosis.

    abstract：BACKGROUND:The diagnostic accuracy of histopathological detection of transthyretin amyloid (ATTR) by Congo red staining of abdominal fat samples has been questioned since low sensitivity has been reported, especially for patients with ATTR cardiomyopathy. However, the outcome of surgically obtained fat pad biopsies has...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章

    doi：10.1186/s13023-020-01565-8

    authors： Paulsson Rokke H,Sadat Gousheh N,Westermark P,Suhr OB,Anan I,Ihse E,Pilebro B,Wixner J

    更新日期：2020-10-08 00:00:00

  • Biliary atresia.

    abstract：:Biliary atresia (BA) is a rare disease characterised by a biliary obstruction of unknown origin that presents in the neonatal period. It is the most frequent surgical cause of cholestatic jaundice in this age group. BA occurs in approximately 1/18,000 live births in Western Europe. In the world, the reported incidence...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章,评审

    doi：10.1186/1750-1172-1-28

    authors： Chardot C

    更新日期：2006-07-26 00:00:00

  • Potential impact of the implementation of multiple-criteria decision analysis (MCDA) on the Polish pricing and reimbursement process of orphan drugs.

    abstract：BACKGROUND:The objective of this study was to assess the potential impact of the implementation of multiple-criteria decision analysis (MCDA) on the Polish pricing and reimbursement (P&R) process with regard to orphan drugs. METHODS:A four step approach was designed. Firstly, a systematic literature review was conduct...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章

    doi：10.1186/s13023-016-0388-0

    authors： Kolasa K,Zwolinski KM,Kalo Z,Hermanowski T

    更新日期：2016-03-10 00:00:00

  • Compounds that correct F508del-CFTR trafficking can also correct other protein trafficking diseases: an in vitro study using cell lines.

    abstract：BACKGROUND:Many genetic diseases are due to defects in protein trafficking where the mutant protein is recognized by the quality control systems, retained in the endoplasmic reticulum (ER), and degraded by the proteasome. In many cases, the mutant protein retains function if it can be trafficked to its proper cellular ...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章

    doi：10.1186/1750-1172-8-11

    authors： Sampson HM,Lam H,Chen PC,Zhang D,Mottillo C,Mirza M,Qasim K,Shrier A,Shyng SL,Hanrahan JW,Thomas DY

    更新日期：2013-01-14 00:00:00

  • Pain drawings as a diagnostic tool for the differentiation between two pain-associated rare diseases (Ehlers-Danlos-Syndrome, Guillain-Barré-Syndrome).

    abstract：BACKGROUND:The diagnosis of rare diseases poses a particular challenge to clinicians. This study analyzes whether patients' pain drawings (PDs) help in the differentiation of two pain-associated rare diseases, Ehlers-Danlos Syndrome (EDS) and Guillain-Barré Syndrome (GBS). METHOD:The study was designed as a prospectiv...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章

    doi：10.1186/s13023-020-01542-1

    authors： Wester L,Mücke M,Bender TTA,Sellin J,Klawonn F,Conrad R,Szczypien N

    更新日期：2020-11-17 00:00:00

  • Review of Dercum's disease and proposal of diagnostic criteria, diagnostic methods, classification and management.

    abstract：UNLABELLED:DEFINITION AND CLINICAL PICTURE: We propose the minimal definition of Dercum's disease to be generalised overweight or obesity in combination with painful adipose tissue. The associated symptoms in Dercum's disease include fatty deposits, easy bruisability, sleep disturbances, impaired memory, depression, di...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章,评审

    doi：10.1186/1750-1172-7-23

    authors： Hansson E,Svensson H,Brorson H

    更新日期：2012-04-30 00:00:00

  • Correction to: Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes.

    abstract：:The original version of this article [1] unfortunately included an error to an author's name. Author Maja Di Rocco was erroneously presented as Maja DiRocco.The correct author name has been included in the author list of this Correction article and is already updated in the original article. ...

    journal_title：Orphanet journal of rare diseases

    pub_type： 已发布勘误

    doi：10.1186/s13023-019-1096-3

    authors： Pignolo RJ,Baujat G,Brown MA,De Cunto C,Di Rocco M,Hsiao EC,Keen R,Al Mukaddam M,Sang KLQ,Wilson A,White B,Grogan DR,Kaplan FS

    更新日期：2019-05-23 00:00:00

  • Sickle cell disease induces resistance to cutaneous carcinogenesis.

    abstract：BACKGROUND:While skin carcinomas are reported in chronic ulcers and in patients treated with hydroxyurea (HU) for myeloproliferative neoplasms, no skin carcinoma has been reported in patients with sickle cell disease (SCD), presenting chronic skin ulcers or treated with HU. The objective was to estimate the risk of cut...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章

    doi：10.1186/s13023-020-1341-9

    authors： Soutou B,Senet P,Lionnet F,Habibi A,Aractingi S

    更新日期：2020-03-06 00:00:00

  • Pigmentary mosaicism: a review of original literature and recommendations for future handling.

    abstract：BACKGROUND:Pigmentary mosaicism is a term that describes varied patterns of pigmentation in the skin caused by genetic heterogeneity of the skin cells. In a substantial number of cases, pigmentary mosaicism is observed alongside extracutaneous abnormalities typically involving the central nervous system and the musculo...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章,评审

    doi：10.1186/s13023-018-0778-6

    authors： Kromann AB,Ousager LB,Ali IKM,Aydemir N,Bygum A

    更新日期：2018-03-05 00:00:00

  • Differences in cardiac phenotype and natural history of laminopathies with and without neuromuscular onset.

    abstract：OBJECTIVE:To investigate differences in cardiac manifestations of patients affected by laminopathy, according to the presence or absence of neuromuscular involvement at presentation. METHODS:We prospectively analyzed 40 consecutive patients with a diagnosis of laminopathy followed at a single centre between 1998 and 2...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章

    doi：10.1186/s13023-019-1245-8

    authors： Ditaranto R,Boriani G,Biffi M,Lorenzini M,Graziosi M,Ziacchi M,Pasquale F,Vitale G,Berardini A,Rinaldi R,Lattanzi G,Potena L,Martin Suarez S,Bacchi Reggiani ML,Rapezzi C,Biagini E

    更新日期：2019-11-19 00:00:00

  • LINS, a modulator of the WNT signaling pathway, is involved in human cognition.

    abstract：BACKGROUND:Inherited intellectual disability (ID) conditions are a group of genetically heterogeneous disorders that lead to variable degrees of cognition deficits. It has been shown that inherited ID can be caused by mutations in over 100 different genes and there is evidence for the presence of as yet unidentified ge...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章

    doi：10.1186/1750-1172-8-87

    authors： Akawi NA,Al-Jasmi F,Al-Shamsi AM,Ali BR,Al-Gazali L

    更新日期：2013-06-17 00:00:00

  • Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.

    abstract：BACKGROUND:Determining the etiology of oculocutaneous albinism is important for proper clinical management and to determine prognosis. The purpose of this study was to genotype and phenotype eight adopted Chinese children who presented with oculocutaneous albinism and easy bruisability. RESULTS:The patients were evalu...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章

    doi：10.1186/s13023-019-1023-7

    authors： Power B,Ferreira CR,Chen D,Zein WM,O'Brien KJ,Introne WJ,Stephen J,Gahl WA,Huizing M,Malicdan MCV,Adams DR,Gochuico BR

    更新日期：2019-02-21 00:00:00

  • Reference percentiles for FEV(1) and BMI in European children and adults with cystic fibrosis.

    abstract：BACKGROUND:The clinical course of Cystic Fibrosis (CF) is usually measured using the percent predicted FEV(1) and BMI Z-score referenced against a healthy population, since achieving normality is the ultimate goal of CF care. Referencing against age and sex matched CF peers may provide valuable information for patients...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章

    doi：10.1186/1750-1172-7-64

    authors： Boëlle PY,Viviani L,Busson PF,Olesen HV,Ravilly S,Stern M,Assael BM,Barreto C,Drevinek P,Thomas M,Krivec U,Mei-Zahav M,Vibert JF,Clement A,Mehta A,Corvol H,French CF Modifier Gene Study Investigators.,European CF Regist

    更新日期：2012-09-07 00:00:00

  • European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants.

    abstract：:The ACTA2 gene encodes for smooth muscle specific α-actin, a critical component of the contractile apparatus of the vascular smooth muscle cell. Pathogenic variants in the ACTA2 gene are the most frequently encountered genetic cause of non-syndromic hereditary thoracic aortic disease (HTAD). Although thoracic aortic a...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章

    doi：10.1186/s13023-019-1186-2

    authors： van de Laar IMBH,Arbustini E,Loeys B,Björck E,Murphy L,Groenink M,Kempers M,Timmermans J,Roos-Hesselink J,Benke K,Pepe G,Mulder B,Szabolcs Z,Teixidó-Turà G,Robert L,Emmanuel Y,Evangelista A,Pini A,von Kodolitsch Y,J

    更新日期：2019-11-21 00:00:00

  • Correction to: Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review.

    abstract：:After publication of this article [1], it is noticed reference no. 17 was incorrectly provided, details are shown below. ...

    journal_title：Orphanet journal of rare diseases

    pub_type： 已发布勘误

    doi：10.1186/s13023-019-1084-7

    authors： Pittaway JFH,Harrison C,Rhee Y,Holder-Espinasse M,Fryer AE,Cundy T,Drake WM,Irving MD

    更新日期：2019-05-10 00:00:00

  • Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency.

    abstract：BACKGROUND:Lysosomal acid lipase deficiency (LALD) is an autosomal recessive inborn error of lipid metabolism characterized by impaired lysosomal hydrolysis and consequent accumulation of cholesteryl esters and triglycerides. The phenotypic spectrum is diverse, ranging from severe, neonatal onset failure to thrive, hep...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章

    doi：10.1186/s13023-020-1328-6

    authors： Pritchard AB,Strong A,Ficicioglu C

    更新日期：2020-02-24 00:00:00

  • Rescue of fragile X syndrome phenotypes in Fmr1 KO mice by a BKCa channel opener molecule.

    abstract：BACKGROUND:Fragile X Syndrome (FXS) is the most common form of inherited intellectual disability and is also associated with autism spectrum disorders. Previous studies implicated BKCa channels in the neuropathogenesis of FXS, but the main question was whether pharmacological BKCa stimulation would be able to rescue FX...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章

    doi：10.1186/s13023-014-0124-6

    authors： Hébert B,Pietropaolo S,Même S,Laudier B,Laugeray A,Doisne N,Quartier A,Lefeuvre S,Got L,Cahard D,Laumonnier F,Crusio WE,Pichon J,Menuet A,Perche O,Briault S

    更新日期：2014-08-01 00:00:00

  • Genital ulcer severity score and genital health quality of life in Behçet's disease.

    abstract：BACKGROUND:Behçet's Disease (BD) is a chronic auto-inflammatory, multisystem relapsing/remitting disorder of unknown aetiology. Oro-genital ulceration is a key feature of the disease and has a major impact on the patients' quality of life. Other clinical manifestations include ocular inflammation, rheumatologic and ski...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章

    doi：10.1186/s13023-015-0341-7

    authors： Senusi A,Seoudi N,Bergmeier LA,Fortune F

    更新日期：2015-09-22 00:00:00

  • Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities.

    abstract：BACKGROUND:Imerslund-Gräsbeck syndrome (IGS) was described just over 50 years ago by Olga Imerslund and Ralph Gräsbeck and colleagues. IGS is caused by specific malabsorption of cobalamin (Cbl) due to bi-allelic mutations in either the cubilin gene (CUBN) or the human amnionless homolog (AMN). Mutations in the two gene...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章

    doi：10.1186/1750-1172-6-74

    authors： Beech CM,Liyanarachchi S,Shah NP,Sturm AC,Sadiq MF,de la Chapelle A,Tanner SM

    更新日期：2011-11-13 00:00:00

  • Patient reported outcome measures in a large cohort of patients with type 1 Gaucher disease.

    abstract：BACKGROUND:It is now acknowledged that the input of patients in health outcome assessment is vital to understanding the impact of diseases and interventions for those diseases. This study is the first report of patient-reported outcome measures (PROM) in a large cohort of patients with type 1 Gaucher disease (GD1) enab...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章

    doi：10.1186/s13023-020-01544-z

    authors： Dinur T,Istaiti M,Frydman D,Becker-Cohen M,Szer J,Zimran A,Revel-Vilk S

    更新日期：2020-10-13 00:00:00

  • Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study.

    abstract：BACKGROUND:Isovaleric aciduria (IVA), propionic aciduria (PA) and methylmalonic aciduria (MMA) are inherited organic acidurias (OAs) in which impaired organic acid metabolism induces hyperammonaemia arising partly from secondary deficiency of N-acetylglutamate (NAG) synthase. Rapid reduction in plasma ammonia is requir...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章,多中心研究

    doi：10.1186/s13023-016-0406-2

    authors： Valayannopoulos V,Baruteau J,Delgado MB,Cano A,Couce ML,Del Toro M,Donati MA,Garcia-Cazorla A,Gil-Ortega D,Gomez-de Quero P,Guffon N,Hofstede FC,Kalkan-Ucar S,Coker M,Lama-More R,Martinez-Pardo Casanova M,Molina A,Picha

    更新日期：2016-03-31 00:00:00

  • Prevalence of Fabry disease in dialysis patients: Western Australia Fabry disease screening study - the FoRWARD study.

    abstract：AIM:To determine the prevalence of undiagnosed Fabry Disease (FD) in Western Australian (WA) patients undergoing dialysis. BACKGROUND:FD is a multisystem X-linked lysosomal storage disease caused by deficient activity of alpha-galactosidase-A (α-GAL-A). Affected individuals are at risk of developing small-fibre neurop...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章

    doi：10.1186/s13023-019-1290-3

    authors： Jahan S,Sarathchandran S,Akhter S,Goldblatt J,Stark S,Crawford D,Mallett A,Thomas M

    更新日期：2020-01-13 00:00:00

  • Experiences of caregivers of children with inherited metabolic diseases: a qualitative study.

    abstract：BACKGROUND:We sought to understand the experiences of parents/caregivers of children with inherited metabolic diseases (IMD) in order to inform strategies for supporting patients and their families. We investigated their experiences regarding the management of disease, its impact on child and family life, and interacti...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章

    doi：10.1186/s13023-016-0548-2

    authors： Siddiq S,Wilson BJ,Graham ID,Lamoureux M,Khangura SD,Tingley K,Tessier L,Chakraborty P,Coyle D,Dyack S,Gillis J,Greenberg C,Hayeems RZ,Jain-Ghai S,Kronick JB,Laberge AM,Little J,Mitchell JJ,Prasad C,Siriwardena K,

    更新日期：2016-12-07 00:00:00

  • Haemoglobinopathies in Europe: health & migration policy perspectives.

    abstract：BACKGROUND:Major haemoglobinopathies (MH), such as thalassaemia syndromes (Thal) and sickle cell disorders (SCD), are genetic defects associated with chronic anaemia and other complications. In Europe, MH are rare diseases (RD) but their prevalence is significantly growing in many countries due to mobility and migratio...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章

    doi：10.1186/1750-1172-9-97

    authors： Aguilar Martinez P,Angastiniotis M,Eleftheriou A,Gulbis B,Mañú Pereira Mdel M,Petrova-Benedict R,Corrons JL

    更新日期：2014-07-01 00:00:00

  • Future treatments for hereditary hemorrhagic telangiectasia.

    abstract：:Hereditary Hemorrhagic Telangiectasia (HHT), also known as Rendu-Osler syndrome, is a genetic vascular disorder affecting 1 in 5000-8000 individuals worldwide. This rare disease is characterized by various vascular defects including epistaxis, blood vessel dilations (telangiectasia) and arteriovenous malformations (AV...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章,评审

    doi：10.1186/s13023-019-1281-4

    authors： Robert F,Desroches-Castan A,Bailly S,Dupuis-Girod S,Feige JJ

    更新日期：2020-01-07 00:00:00

  • Diagnosis and treatment of congenital tuberculosis: a systematic review of 92 cases.

    abstract：BACKGROUND:Congenital tuberculosis is rare and carries a high mortality rate. Our objective was to summarize the current experience of the diagnosis and treatment of patients with congenital tuberculosis. METHODS:In total, 73 reported cases of congenital tuberculosis published in Chinese and 19 patients with congenita...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章,评审

    doi：10.1186/s13023-019-1101-x

    authors： Li C,Liu L,Tao Y

    更新日期：2019-06-10 00:00:00

  • Cutaneous neurofibromas: patients' medical burden, current management and therapeutic expectations: results from an online European patient community survey.

    abstract：BACKGROUND:Neurofibromatosis type 1 is an inherited condition with variable phenotypic expression and a high medical and social burden. The objectives of this patient survey were to better understand the real-world experiences of patients living with cutaneous neurofibromas (cNF), to perceive their satisfaction and fee...

    journal_title：Orphanet journal of rare diseases

    pub_type： 杂志文章

    doi：10.1186/s13023-019-1265-4

    authors： Guiraud M,Bouroubi A,Beauchamp R,Bocquet A,Grégoire JM,Rauly-Lestienne I,Blanco I,Wolkenstein P,Schmitt AM

    更新日期：2019-12-04 00:00:00