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The developments of mass spectrometry and gene detection technology and the introduction of newborn screening have led to an expanding population of patients with inherited metabolic diseases.Therapies of inherited metabolic diseases have attracted much attention.The basic principles of management in these diseases are to limite the consumption of nutrients that produce toxic products, supplement deficient substances, and increase excretion of toxic metabolites.Dietary therapy is one of the major treatments for many inherited metabolic disorders, with the starting point of limiting the intake of substrates for metabolic disorders and supplementing products of insufficient synthesis or alternative energy sources to bypass the defective pathway in order to maintain normal growth and development.With more and more special medical formula nutritional foods being put into production and use, dietary therapy become accessible and compliant.With the effective dietary therapy, many patients get clinical symptom controlled, and their quality of life has been improved.This article mainly elaborates the common inherited metabolic diseases dietary therapy.
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Rubinstein-Taybi syndrome (RSTS) is a rare congenital neurodevelopmental retardation disease involving multiple organ and system abnormalities.The main manifestations include broad thumbs and big toes, specific facial characteristics, developmental and mental retardation.In addition, it is also manifested as ocular abnormalities, hearing loss, repeated respiratory infection and dyspnea, gastrointestinal disorders, urogenital system disorders and severe constipation.It can be classified into 2 types: RSTS1 (OMIM#180849) caused by the CREBBP gene mutation and RSTS2 (OMIM#613684) caused by the EP300 gene mutation, and most of them are found in the de novo truncated variation.Up to now, a clear diagnosis criterion for RSTS is lacked, which is mainly based on the comprehensive analysis of clinical and genetic results.The main treatment of RSTS is symptomatic and individualized treatment, while early intervention is helpful to improve the prognosis and the quality of life.This study aims to introduce the disease comprehensively, thus enhancing the recognition in RSTS.
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MAMLD1 gene has been implicated in 46,XY disorders of sex development (DSD) in recent years. Patients carrying MAMLD1 gene variants showed a "continuous spectrum" of simple micropenis, mild, moderate and severe hypospadias with micropenis, cryptorchidism, split scrotum and even complete gonadal dysplasia. The function of MAMLD1 gene in sexual development has not been fully elucidated, and its role in DSD has remained controversial. This article has reviewed recent findings on the role of the MAMLD1 gene in DSD, including the MAMLD1 gene, its encoded protein, genetic variants, clinical phenotype and possible pathogenic mechanism in DSD.
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Humanos , Masculino , Proteínas de Ligação a DNA/genética , Transtornos do Desenvolvimento Sexual/genética , Mutação , Proteínas Nucleares/genética , Fenótipo , Desenvolvimento Sexual , Fatores de Transcrição/genéticaRESUMO
The development of newborn screening has led to the diagnosis of an expanding population of patients with inherited metabolic disorders.There are many types of inherited metabolic diseases, some of which are accompanied by episodic or persistent hypoglycemia.Severe episodes of hypoglycemia may aggravate metabolic crisis, as well as brain and vision damage.Nutritional management is the main treatment for inherited metabolic diseases.Correct diet management can reduce or even avoid hypoglycemia attacks while maintaining normal growth and development, inhibit the generation of harmful metabolites, and improve the quality of life of patients.Patients with inherited metabolic disorders complicated by hypoglycemia should adhere to nutrition management throughout their entire life.In this article, the current status of chronic nutritional management of inherited metabolic diseases with hypoglycemia was reviewed and related recommendations were made.
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With the popularization of tandem mass spectrometry and gene detection technology, more and more attention has been paid to hereditary metabolic diseases.The overall incidence rate of hereditary metabolic diseases is 1∶1 000, and the number of patients is huge.The disability and mortality of hereditary metabolic diseases in the acute decompensated period are high.The acute treatment is critical for the prognosis of patients.Limiting the intake of protein is an effective treatment for many patients with amino acid and organic acid hereditary metabolic diseases.However, the lack of standard for protein restriction in the acute decompensation period may lead to " over treatment" in clinical practice and the occurrence of acrodermatitis with hereditary metabolic disorders.In order to standardize and improve the application of dietary therapy in acute treatment, the main points of acute dietary treatment for some common amino acid and organic acid hereditary metabolic diseases were summarized in this paper, and the general protein restriction principle in the acute stage of hereditary metabolic diseases was further explored, so as to provide reference for clinical doctors.
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With the advancement of genetic testing technology, more and more patients were diagnosed with disorders of sex development (DSD) at an increasingly earlier stage.How to better improve the quality of life in patients with DSD has become an urgent problem for medical workers.The growth of children with DSD is an important factor affecting their treatment and quality of life, so it should also be concerned by the majority of medical workers.The factors affecting the growth of children with DSD and the characteristics of the growth patterns of children with common type DSD were described in this review.
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Objective@#Molecular genetics and clinical phenotypic characteristics of 5 alpha reductase deficiency were analyzed.@*Methods@#The genetic results and clinical features classied as Prader grade of external genitalia of 86 children with SRD5A2 mutation seen from 2007 to 2017 at Department of Endocrinology of Beijing Children′s Hospital were analyzed, and the mutation differences in different were compared regions according to the literatures.@*Results@#Among the 86 children, 15 had were homozygous mutations, accounting for 17%, and 71 cases of compound heterozygous mutations accounted for 83%. Totally 172 alleles mutations in this series. The mutation was mainly located on exon 1 and exon 4, in which the mutation frequency of exon 1 was 23.8% (41/172), and the frequency of exon 4 mutation was 55.8% (96/172). A total of 19 mutation types of the SRD5A2 gene in this group were detected, of which 5 were new mutations (p.A228F, p.E57D, p.V124D, p.A117D, p.E197K); 65 patients had p.R227Q mutation, accounting for 76%, while 31 had p.Q6* mutation, accounting for 36%. Other rare types such as p.R246W, p.R103* and so on were also seen in the present study, there was no significant difference between north China and south China (P>0.05). The clinical phenotypes of p.R227Q variation varied, mainly in Prader 3-4, accounting for 82%, while (Prader 0-1) were less, accounting only 2%. The variation of p.Q6* was mainly manifested in Prader 3, accounting for 50%. p.R246Q mainly presented Prader 3. The variation of p.G203S appeared to have Prader 2 and Prader 4-5, accounting for 20% and 73% respectively. There was no significant difference in clinical phenotype corresponding to each protein type (P>0.05) .@*Conclusion@#Among the 86 children have identified 19 SRD5A2 mutation types, p.R227Q is a hotspot mutation in Chinese. Variations at different types may have different clinical phenotypes, while the same variations may have different clinical features. There was no significance different in the variation types between the north and the south.
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Children diabetes is a rare chronic disease,recent data on the incidence of childhood diabetes show both types of diabetes are increasing worldwide.How to implement individualization on the basis of the principle of comprehensive management of diabetes mellitus,and ultimately make blood sugar achieve optimal control and reduce complications is the goal of treatment.In order to correctly treat and utilize new insulin dosage forms and new blood sugar monitoring technology in children,it is necessary to integrate all aspects of information and make comprehensive decisions.Now,how to realize individualization on the basis of comprehensive management of diabetes mellitus was elaborated.
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Blood glucose monitoring is a tool to guide medical nutrition therapy,exercise intensity and time,and helps to effectively prevent hypoglycemia and adjust insulin treatment programs.It is an important part of comprehensive treatment of diabetes mellitus.Continuous glucose monitoring (CGM),as a supplement to self-monitoring blood glucose,helps to reduce the incidence of hypoglycemia and the duration of hypoglycemia in diabetic children.In addition,parents and children are satisfied with CGM,so it is increasingly used in children with diabetes mellitus.However,current research and clinical experience have shown that it is not entirely possible to rely on CGM values for treatment adjustment in children.Success with CGM requires detailed education and training in diabetes management coupled with extensive training in the use of CGM.
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Children diabetes is a rare chronic disease, recent data on the incidence of childhood diabetes show both types of diabetes are increasing worldwide.How to implement individualization on the basis of the principle of comprehensive management of diabetes mellitus, and ultimately make blood sugar achieve optimal control and reduce complications is the goal of treatment.In order to correctly treat and utilize new insulin dosage forms and new blood sugar monitoring technology in children, it is necessary to integrate all aspects of information and make comprehensive decisions.Now, how to realize individualization on the basis of comprehensive management of diabetes mellitus was elaborated.
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Blood glucose monitoring is a tool to guide medical nutrition therapy, exercise intensity and time, and helps to effectively prevent hypoglycemia and adjust insulin treatment programs.It is an important part of comprehensive treatment of diabetes mellitus.Continuous glucose monitoring (CGM), as a supplement to self-monitoring blood glucose, helps to reduce the incidence of hypoglycemia and the duration of hypoglycemia in diabetic children.In addition, parents and children are satisfied with CGM, so it is increasingly used in children with diabetes mellitus.However, current research and clinical experience have shown that it is not entirely possible to rely on CGM values for treatment adjustment in children.Success with CGM requires detailed education and training in diabetes management coupled with extensive training in the use of CGM.
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CHARGE syndrome is a rare autosomal dominant genetic disease, which involves the structure and function of multiple organs.The clinical manifestations are complex and diverse, it can be hereditary, but most cases was sporadic.While, the representation of disease is too much overlap with other diseases, it can be difficult to make a diagnosis only by clinical data.With the discovery of the pathogenic gene-CHD7, it can be further enhanced the knowledge and diagnosis of disease.Prompt diagnosis and treatment is not only beneficial to reduce mortality, but also can help to the prognosis of the patients.Through reviewing the literature, the progress of diagnosis and treatment of CHARGE syndrome were summarized in order to diagnose and treat the disease.
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CHARGE syndrome is a rare autosomal dominant genetic disease,which involves the structure and function of multiple organs. The clinical manifestations are complex and diverse,it can be hereditary,but most cases was sporadic. While,the representation of disease is too much overlap with other diseases,it can be difficult to make a diag-nosis only by clinical data. With the discovery of the pathogenic gene-CHD7,it can be further enhanced the knowledge and diagnosis of disease. Prompt diagnosis and treatment is not only beneficial to reduce mortality,but also can help to the prognosis of the patients. Through reviewing the literature,the progress of diagnosis and treatment of CHARGE syn-drome were summarized in order to diagnose and treat the disease.
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Resistance to the thyroid hormone is a rare and hereditary thyroid disease,the signs and symptoms are diverse and the onset is hidden.It is often misdiagnosed as a common thyroid disease and given inappropriate diagnosis and treatment.Improper diagnosis and treatment would cause adverse effect on growth and development of sick children.It is necessary to improve awareness,understanding and mastery of this disease,so as to improve the level of clinical diagnosis and treatment.
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The characteristics of thyroid nodules in children are significantly different from those in adults,and the assessment and treatment of thyroid nodules in children are also different from those in adults.The key step to evaluate thyroid nodules is to differentiate benign from malignant nodules.Early identification of risk factors,definite diagnosis based on medical history,laboratory and related instruments,reasonable treatment and avoidance of overdiagnosis and treatment are helpful to improve the prognosis of children with thyroid nodules,especially children with malignant tumors,and reduce complications.
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Objective@#To analyze the clinical characteristics and prognosis of thyroid cancer in children.@*Methods@#Clinical data of 164 children (60 boys, 104 girls) with space-occupying lesions of the thyroid who were hospitalized in Beijing Children's Hospital Affiliated to Capital Medical University from July 2006 to December 2017 were collected. Sixty-two children with thyroid cancer were reviewed respectively and followed up by telephone.@*Results@#From July 2006 to December 2017, children with thyroid cancer accounted for 37.8% (62/164) of children with space-occupying lesions of the thyroid. The number of children with space-occupying lesions of the thyroid every 2 years was 13, 21, 19, 33, 38, 41, and the number of children with thyroid cancer every 2 years was 2, 5, 3, 8, 21, 23. One out of 62 thyroid cancer was follicular thyroid cancer, the others were papillary thyroid cancer, neck mass was the chief complaint in 60 of 62 patients. Two cases were brought to hospital with respiratory tract oppression as the chief complaint. Forty-eight cases got long-term follow-up by telephone, over 50 percent of cases received follow-up for more than 2 years, the median follow-up time was 2.63 years (0.25-8.67 years), most of these patients had favorable prognoses. Hypothyroidism (98%) and hypocalcemia (33%) were main long-term complication. Hypothyroidism recovered well after thyroxine replacement therapy, and in only 5 children hypocalcemia was spontaneously relieved, the average remission time was 1.9 months, the longest time for recovering from hypocalcemia was 6 months; the other cases responded well when they were treated as secondary hypoparathyroidism, with no hypocalcemia symptoms. Nine children had distant metastasis after operation, the average recurrence time was 12.8 months, and the latest relapsing time was 2 years. The overall prognosis was good, the longest follow-up period was 8 years and no death was found.@*Conclusions@#Pediatric space-occupying lesions of the thyroid and thyroid cancer are rising during the last 12 years. Hypothyroidism and hypocalcemia are main long-term complications after surgery, the children cases recovered well, the remission of hypocalcemia was achieved not later than 6 months. The overall prognosis of childhood thyroid cancer was good, without death within the follow-up period.
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Congenital hyperinsulinism (CHI) is the most frequent cause of persistent hypoglycemia in infancy,and it is a rare genetic disorder characterized by severe hypoglycemia caused by inappropriate insulin secretion by pancreatic β-cells.The clinical presentation,histology,genetics and response to medical treatment are of genetic heterogeneity.Appropriate treatment is critically important as profound and repeated episodes of hypoglycemia often cause severe brain damage.Based on the biochemical profiles,clinical diagnosis is relative easier to be established,however,the genetic basis is only found in approximately 45％-55％ of patients.In terms of treatment,Diazoxide is recommended as first-line treatment for all patients [5-20 mg/(kg · d)].In patients unresponsive to Diazoxide,if genetic result confirms a monoallelic,recessive paternally-inherited mutation in ABCC8 or KCNJ11,and 18F-fluorodihydroxyphenylalanine-positron emission tomography-computed tomography scan indicates the lesion is located in the body or tail of the pancreas,surgical treatment is recommended.And for the other patients,subcutaneous octreotide,intravenous glucagon,or oral calcium antagonist should be sequentially attempted in order to minimize the need for near-total/subtotal pancreatectomy.
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Objective@#To analyze the effect of the use of antibiotics intervened by clinical pharmacist in diabetic ketoacidosis (DKA) patients.@*Method@#This was a prospective clinical study with a historical control group.The group 1 was the control group which was not intervened for antibiotics use from January 2010 to November 2012. The group 2 was the intervention group treated from December 2012 to June 2016. Group 1 was divided into group 1a which included newly-onset diabetes patients and group 1b which included long standing diabetes patients. Group 2 was divided into the similar group 2a and group 2b.Clinical pharmacist supervised the implementation of terms to restrict the use of antibiotics.Changes of the rate of antibiotics use, the length of time of antibiotics use, hospital stay, the cost of antibiotics, etc.were compared.@*Result@#In group 1a and group 2a, the rate of antibiotics use was 85%(107/126) and 31%(58/190)(χ2=25.787), the length of time of antibiotics use was 11(7-18)d and 6(4-10)d (U=1 507), the hospital stay was 23(18-27)and 20(6-24)d(U=8 177) , the cost of antibiotics was 1 615(1 000-2 970)and 1 080(504-1 932) yuan ( U=1 783), the differences had statistical significance(P<0.05). In group 1b and group 2b, the rate of antibiotics use was 97% (33/34) and 48% (23/48)(χ2=14.222), the length of time of antibiotics use was 8(6-12)d and 5(4-7)d (U=180), the hospital stay was 15(10-21)and 12(8-16)d (U=580), the cost of antibiotics was 2 200(1 356-3 100)and 1 600(705-2 200) yuan (U=223), the differences had statistical significance(P<0.05).@*Conclusion@#Clinical pharmacist intervened use of antibiotics was effective in reducing the use of antibiotics and financial burden.
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A 2-month-and-20-day-old girl was hospitalized because of slow weight gain for 20 days.The patient was diagnosed as anemia,pneumonia and neutrophils firstly,and showed no improvement during anti-infective therapy,blood transfusion,and leukopenia drugs.The urinary organic acid spectrum of the patient showed increased methylmalonic acid slightly,but the normal value was found by 4 tests,which was inconsistent with the typical methylmalonic aciduria.By analyzing clinical manifestations and plasma homocysteine,folic acid and vitamin B12 levels,she was considered to have intracellular cobalamin metabolic disorder.Then,normal diet,intramuscular injection of vitamin B12,and feeding calcium,betaine,and L-carnitine were given,and the girl's symptoms were improved significantly.Latter gene analysis further showed that the patient had methylmalonic aciduria CblC type.Clinical manifestations of methylmalonic aciduria are complex and individually various,different therapies showed be applied to different causes.The value of urinary methylmalonic acid level alone cannot judge etiology;diagnosis should be based on blood amino acids and carnitine spectrum,homocysteine level and vitamin B12 level.
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Disorders of sex development (DSD) are a wide range of conditions with diverse features and pathophysiology.These clinical situations can often be difficult to classify,diagnose and treat,particularly in 46,XY DSD cases.A comprehensive differential diagnosis should be based on detailed evaluation of the genitalia,imaging and hormone investigations,as well as the genetics analysis.To achieve a better prognosis,the gonadal function needs to be protected as far as possible in the treatment of choice.As for the adolescent boys with congenital hypogonadotropic hypogonadodism,pulsatile gonadotrophin releasing hormone is superior to human chorionic gonadotrophin in therapeutic efficacy in the induction of puberty,and the latter could considered as an alterative,the course of treatment should be kept for 1 year.In this article,the literatures in this field are reviewed,combined with clinical practice experience from National Center for Children's Health to establish a framework that could assist clinicians to make better diagnosis and treatment decisions for 46,XY DSD.