Dataset Information

Current diagnosis and management of rare pediatric diseases in China.

ABSTRACT: This review categorizes and summarizes the rare pediatric diseases that have been included in the First List of Rare Diseases that was jointly published by the National Health Commission and four other government departments in China in 2018. In total, 58 diseases that develop during childhood are included. These diseases involve nine organ systems, including the musculoskeletal, respiratory, immune, endocrine and metabolic, nervous, cardiovascular, hematological, urinary, and integumentary systems. Affected children often have multiorgan involvement with various presentations. Severe diseases can cause acute symptoms starting in the neonatal period that lead to increased morbidity and mortality without prompt management. Early diagnosis and treatment can significantly change the course of a disease and improve its prognosis. This work systemically reviews the status of rare pediatric diseases with a relatively high incidence in the First List of Rare Diseases.

SUBMITTER: Yang D

PROVIDER: S-EPMC8630464 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Current diagnosis and management of rare pediatric diseases in China.

Yang Dan D Ren Xiuzhi X Lu Yanqin Y Han Jinxiang J

Intractable & rare diseases research 20211101 4

This review categorizes and summarizes the rare pediatric diseases that have been included in the <i>First List of Rare Diseases</i> that was jointly published by the National Health Commission and four other government departments in China in 2018. In total, 58 diseases that develop during childhood are included. These diseases involve nine organ systems, including the musculoskeletal, respiratory, immune, endocrine and metabolic, nervous, cardiovascular, hematological, urinary, and integumenta ...[more]

PMID: 34877234

Similar Datasets

Project description:BackgroundFor a number of persons with rare diseases (RDs) a definite diagnosis remains undiscovered with relevant physical, psychological and social consequences. Undiagnosed RDs (URDs) require other than specialised clinical centres, outstanding molecular investigations, common protocols and dedicated actions at national and international levels; thus, many "Undiagnosed RDs programs" have been gradually developed on the grounds of a well-structured multidisciplinary approach.MethodsThe Italian Undiagnosed Rare Diseases Network (IURDN) was established in 2016 to improve the level of diagnosis of persons with URD living in Italy. Six Italian Centres of Expertise represented the network. The National Centre for Rare Diseases at the Istituto Superiore di Sanità coordinates the whole project. The software PhenoTips was used to collect the information of the clinical cases.ResultsOne hundred and ten cases were analysed between March 2016 and June 2019. The age of onset of the diseases ranged from prenatal age to 51 years. Conditions were predominantly sporadic; almost all patients had multiple organs involvements. A total of 13/71 family cases were characterized by WES; in some families more than one individual was affected, so leading to 20/71 individuals investigated. Disease causing variants were identified in two cases and were associated to previously undescribed phenotypes. In 5 cases, new candidate genes were identified, although confirmatory tests are pending. In three families, investigations were not completed due to the scarce compliance of members and molecular investigations were temporary suspended. Finally, three cases (one familial) remain still unsolved. Twelve undiagnosed clinical cases were then selected to be shared at International level through PhenomeCentral in accordance to the UDNI statement.ConclusionsOur results showed a molecular diagnostic yield of 53,8%; this value is comparable to the diagnostic rates reported in other international studies. Cases collected were also pooled with those collected by UDNI International Network. This represents a unique example of global initiative aimed at sharing and validating knowledge and experience in this field. IURDN is a multidisciplinary and useful initiative linking National and International efforts aimed at making timely and appropriate diagnoses in RD patients who still do not have a confirmed diagnosis even after a long time.

Project description:Abetalipoproteinemia (ABL) is a rare autosomal recessive disorder caused by biallelic pathogenic mutations in the MTTP gene. Deficiency of microsomal triglyceride transfer protein (MTTP) abrogates the assembly of apolipoprotein (apo) B-containing lipoprotein in the intestine and liver, resulting in malabsorption of fat and fat-soluble vitamins and severe hypolipidemia. Patients with ABL typically manifest steatorrhea, vomiting, and failure to thrive in infancy. The deficiency of fat-soluble vitamins progressively develops into a variety of symptoms later in life, including hematological (acanthocytosis, anemia, bleeding tendency, etc.), neuromuscular (spinocerebellar ataxia, peripheral neuropathy, myopathy, etc.), and ophthalmological symptoms (e.g., retinitis pigmentosa). If left untreated, the disease can be debilitating and even lethal by the third decade of life due to the development of severe complications, such as blindness, neuromyopathy, and respiratory failure. High dose vitamin supplementation is the mainstay for treatment and may prevent, delay, or alleviate the complications and improve the prognosis, enabling some patients to live to the eighth decade of life. However, it cannot fully prevent or restore impaired function. Novel therapeutic modalities that improve quality of life and prognosis are awaited. The aim of this review is to 1) summarize the pathogenesis, clinical signs and symptoms, diagnosis, and management of ABL, and 2) propose diagnostic criteria that define eligibility to receive financial support from the Japanese government for patients with ABL as a rare and intractable disease. In addition, our diagnostic criteria and the entry criterion of low-density lipoprotein cholesterol (LDL-C) ＜15 mg/dL and apoB ＜15 mg/dL can be useful in universal or opportunistic screening for the disease. Registry research on ABL is currently ongoing to better understand the disease burden and unmet needs of this life-threatening disease with few therapeutic options.

Dataset Information

Current diagnosis and management of rare pediatric diseases in China.

Publications

Current diagnosis and management of rare pediatric diseases in China.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets