Abstract：
:Microvillous inclusion disease (MVID) or microvillous atrophy is a congenital disorder of the intestinal epithelial cells that presents with persistent life-threatening watery diarrhea and is characterized by morphological enterocyte abnormalities. MVID manifests either in the first days of life (early-onset form) or in the first two months (late-onset form) of life. MVID is a very rare disorder of unknown origin, probably transmitted as an autosomal recessive trait. To date, no prevalence data are available. Ultrastructural analyses reveal: 1) a partial to total atrophy of microvilli on mature enterocytes with apical accumulation of numerous secretory granules in immature enterocytes; 2) the highly characteristic inclusion bodies containing rudimentary or fully differentiated microvilli in mature enterocytes. Light microscopy shows accumulation of PAS-positive granules at the apical pole of immature enterocytes, together with atrophic band indicating microvillus atrophy and, in parallel, an intracellular PAS or CD10 positive line (marking the microvillous inclusion bodies seen on electron microscopy). Intestinal failure secondary to diarrhea is definitive. To date, no curative therapy exists and children with MVID are totally dependent on parenteral nutrition. Long-term outcome is generally poor, due to metabolic decompensation, repeated states of dehydration, infectious and liver complications related to the parenteral nutrition. As MVID is a very rare disorder, which is extremely difficult to diagnose and manage, children with MVID should be transferred to specialized pediatric gastro-intestinal centers, if possible, a center equipped to perform small bowel transplantation. Early small bowel transplantation resulting in intestinal autonomy gives new hope for disease management and outcome.
journal_name
Orphanet J Rare Disjournal_title
Orphanet journal of rare diseasesauthors
Ruemmele FM,Schmitz J,Goulet Odoi
10.1186/1750-1172-1-22subject
Has Abstractpub_date
2006-06-26 00:00:00pages
22issn
1750-1172pii
1750-1172-1-22journal_volume
1pub_type
杂志文章,评审abstract：OBJECTIVE:High-resolution nerve ultrasound (HRUS) is a painless tool to quickly evaluate peripheral nerve morphology in vivo. This study set out to characterize peripheral nerve involvement in X-linked adrenomyeloneuropathy (AMN) by HRUS. METHODS:Thirteen adults with genetically proven AMN were examined using the Ultr...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-018-0939-7
更新日期：2018-11-03 00:00:00
abstract：BACKGROUND:The efficacy of thymectomy in patients with non-thymomatous Myasthenia Gravis (MG) is still unclear. Main limitations have been variable outcome definitions, lack of a control group and adjustment for confounding. OBJECTIVE:To study the efficacy of thymectomy in achieving remission or minimal manifestation ...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-014-0214-5
更新日期：2014-12-24 00:00:00
abstract：UNLABELLED:DEFINITION OF THE DISEASE: Behçet disease (BD) is a chronic, relapsing, multisystemic disorder characterized by mucocutaneous, ocular, vascular and central nervous system manifestations. EPIDEMIOLOGY:BD seems to cluster along the ancient Silk Road, which extends from eastern Asia to the Mediterranean basin....
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章,评审
doi：10.1186/1750-1172-7-20
更新日期：2012-04-12 00:00:00
abstract：BACKGROUND:Female-limited early-onset high myopia, also called Myopia-26 is a rare monogenic disorder characterized by severe short sightedness starting in early childhood and progressing to blindness potentially by the middle ages. Despite the X-linked locus of the mutated ARR3 gene, the disease paradoxically affects ...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-021-01673-z
更新日期：2021-01-22 00:00:00
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
更新日期：2021-01-30 00:00:00
abstract：:The European Union Committee of Experts on Rare Diseases was entrusted with aiding the European Commission in a number of tasks, ranging from the monitoring of initiatives, to recommending improvements and actions to be pursued in the future, in addition to helping strengthen liaison at both European and International...
journal_title：Orphanet journal of rare diseases
pub_type： 社论
doi：10.1186/1750-1172-9-30
更新日期：2014-02-28 00:00:00
abstract：BACKGROUND:Acid sphingomyelinase deficiency (ASMD), due to mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene, is divided into infantile neurovisceral ASMD (Niemann-Pick type A), chronic neurovisceral ASMD (intermediate form, Niemann-Pick type A/B) and chronic visceral ASMD (Niemann-Pick type B). We conduc...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-019-1029-1
更新日期：2019-02-22 00:00:00
abstract：:Achondroplasia is the most common of the skeletal dysplasias that result in marked short stature (dwarfism). Although its clinical and radiologic phenotype has been described for more than 50 years, there is still a great deal to be learned about the medical issues that arise secondary to this diagnosis, the manner in...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章,评审
doi：10.1186/s13023-018-0972-6
更新日期：2019-01-03 00:00:00
abstract：BACKGROUND:Most orphan drugs do not meet traditional standards of cost-effectiveness. Yet, most orphan drugs are reimbursed, which implies that other factors are taken into account at the time of reimbursement. To increase accountability of decision-makers, there is a need for more transparency in the factors that play...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-014-0139-z
更新日期：2014-09-12 00:00:00
abstract：BACKGROUND:Oligosaccharidoses are storage disorders due to enzymatic defects involved in the breakdown of the oligosaccharidic component of glycosylated proteins. The defect cause the accumulation of oligosaccharides (OS) and, depending on the lacking enzyme, results in characteristic profiles which are helpful for the...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-020-01662-8
更新日期：2021-01-09 00:00:00
abstract：:Schnitzler's syndrome is an auto-inflammatory disorder which is characterized by two mandatory features: an urticarial rash and a monoclonal gammopathy. Although the pathophysiology of this syndrome is not yet fully understood, a role for interleukin-1 seems apparent. While this presumed link between interleukin-1 and...
journal_title：Orphanet journal of rare diseases
pub_type： 信件
doi：10.1186/s13023-019-1117-2
更新日期：2019-06-22 00:00:00
abstract：:Erdheim-Chester Disease (ECD) is a rare form of non Langerhans' cell histiocytosis. Individuals affected by this disease are typically adults between their 5th and 7th decades of life. Males and females are almost equally affected. The multi systemic form of ECD is associated with significant morbidity, which may aris...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章,评审
doi：10.1186/1750-1172-8-137
更新日期：2013-09-08 00:00:00
abstract：BACKGROUND:X-linked hypophosphataemia (XLH) is a rare, hereditary, progressive and lifelong phosphate wasting disorder characterised by pathological elevations in fibroblast growth factor (FGF) 23 concentration and activity; XLH has an incidence of approximately 1 in 20-25,000 individuals. Excess FGF23 activity leads t...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-020-01434-4
更新日期：2020-06-30 00:00:00
abstract：BACKGROUND:Classic galactosemia is a rare genetic metabolic disease with an unmet treatment need. Current standard of care fails to prevent chronically-debilitating brain and gonadal complications. Many mutations in the GALT gene responsible for classic galactosemia have been described to give rise to variants with con...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-018-0954-8
更新日期：2018-11-26 00:00:00
abstract：BACKGROUND:Costello syndrome (CS) and cardio-facio-cutaneous syndrome (CFCS) belong to the RASopathies, a group of neurodevelopmental disorders with skeletal anomalies. Due to their rarity, the characterization of the musculo-skeletal phenotype in both disorders has been poorly characterized. PATIENTS AND METHODS:Here...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-021-01674-y
更新日期：2021-01-22 00:00:00
abstract：BACKGROUND:Approximately 20% of adrenoleukodystrophy (X-ALD) female carriers may develop clinical manifestations, typically consisting of progressive spastic gait, sensory deficits and bladder dysfunctions. A skewing in X Chromosome Inactivation (XCI), leading to the preferential expression of the X chromosome carrying...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/1750-1172-7-10
更新日期：2012-01-26 00:00:00
abstract：BACKGROUND:Phenylketonuria (PKU) is an inherited deficiency in the enzyme phenylalanine hydroxylase (PAH), which, when poorly-managed, is associated with clinical features including deficient growth, microcephaly, seizures, and intellectual impairment. The management of PKU should start as soon as possible after diagno...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-019-1153-y
更新日期：2019-07-22 00:00:00
abstract：:We report a male child with Oromandibular-limb hypogenesis (OMLH), the main features being bilateral sixth and seventh nerve palsies, limb anomalies and hypoplasia of the tongue. Additional features were shortness of the neck associated with torticollis. Radiographs of the cervical spine were non-contributory, but 3D ...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/1750-1172-2-2
更新日期：2007-01-08 00:00:00
abstract：:Progressive familial intrahepatic cholestasis (PFIC) refers to heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. The exact prevalence remains unknown, but the estimated incidence varies between 1/50,000 and 1/100,000 bir...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章,评审
doi：10.1186/1750-1172-4-1
更新日期：2009-01-08 00:00:00
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
更新日期：2016-12-07 00:00:00
abstract：OBJECTIVE:Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disease with many manifestations, and it involves any organ. In this study, we report a TSC patient with new type skin lesions. METHODS:A 7-month-old TSC boy with multiple cutaneous nodules was admitted in our hospital. We collected the cl...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-020-01396-7
更新日期：2020-06-12 00:00:00
abstract：BACKGROUND:The needs and benefits of sharing health data to advance scientific research and improve clinical benefits have been well documented in recent years, specifically in the field of rare diseases where knowledge and expertise are limited and patient populations are geographically dispersed. Understanding what p...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-019-1123-4
更新日期：2019-07-12 00:00:00
abstract：BACKGROUND:Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterised by progressive neurological degeneration, where the rate of neurological disease progression varies depending on age at neurological onset. We report longitudinal data on functional disease progression and safety observations in...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-015-0284-z
更新日期：2015-05-28 00:00:00
abstract：BACKGROUND:Mitochondrial disorders are a clinically, biochemically and genetically heterogeneous group of multi-system diseases, with an unmet medical need for treatment. KH176 is an orally bio-available small molecule under development for the treatment of mitochondrial(-related) diseases. The compound is a member of ...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章,随机对照试验
doi：10.1186/s13023-017-0715-0
更新日期：2017-10-16 00:00:00
abstract：:Paediatric chordomas are rare malignant tumours arising from primitive notochordal remnants with a high rate of recurrence. Only 5 % of them occur in the first two decades such less than 300 paediatric cases have been reported so far in the literature. In children, the average age at diagnosis is 10 years with a male-...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章,评审
doi：10.1186/s13023-015-0340-8
更新日期：2015-09-22 00:00:00
abstract：BACKGROUND:This study was conducted to identify potential biomarkers that could be used to evaluate disease progression and monitor responses to enzyme replacement therapy (ERT) in patients with mucopolysaccharidosis (MPS) IVA. METHODS:Levels of 88 candidate biomarkers were compared in plasma samples from 50 healthy c...
journal_title：Orphanet journal of rare diseases
pub_type： 临床试验,杂志文章,多中心研究
doi：10.1186/1750-1172-6-84
更新日期：2011-12-16 00:00:00
abstract：BACKGROUND:Phenylketonuria (PKU; OMIM#261600) is a rare metabolic disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene resulting in high phenylalanine (Phe) in blood and brain. If not treated early this results in intellectual disability, behavioral and psychiatric problems, microcephaly, motor defi...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-020-1329-5
更新日期：2020-02-27 00:00:00
abstract：BACKGROUND:Orphan medicinal products (OMPs) are intended for the diagnosis, prevention, management or treatment of rare diseases (RDs). Each RD affects only a small fraction of the population, and therefore, historically, industry hesitated to undertake relevant research and development (R&D). In response, the governme...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-019-1224-0
更新日期：2019-11-04 00:00:00
abstract：BACKGROUND:Acute hepatic porphyria (AHP) consists of three rare metabolic disorders. We investigated the risk of long-term sick leave, disability pension, and premature death in individuals with AHP compared to the general population. METHODS:In a nationwide cohort study from 1992 to 2017, records of 333 persons (tota...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-019-1273-4
更新日期：2020-02-21 00:00:00
abstract：BACKGROUND:Hypophosphatasia (HPP) is a rare inborn error of metabolism that results from dysfunction of the tissue non-specific alkaline phosphatase enzyme. Its manifestations are extremely variable, ranging from early lethality to disease limited to the dentition. The disease is life-threatening when manifesting withi...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章,评审
doi：10.1186/s13023-018-0866-7
更新日期：2018-07-16 00:00:00
