scholarly journals HEREDITARY FRUCTOSE INTOLERANCE IN A PEDIATRIC CONTEXT

2018 ◽  
Vol 3 (5) ◽  
pp. 66-74
Author(s):  
Lucas Leimig Telles Parente ◽  
Rodrigo Emmanuel Leimig Telles Parente ◽  
Maria Valéria Leimig Telles ◽  
Maria das Graças Nascimento Silva
Keyword(s):  
Hereditary Fructose Intolerance ◽  
Electronic Library ◽  
Fructose Intolerance ◽  
The Subject ◽  
Aldolase B ◽  
Nutritional Monitoring ◽  
Carbohydrate Intolerance ◽  
Publication Period ◽  
Made In

Carbohydrate intolerance is relatively common in childhood, but its diagnosis and management are still quite precarious. Hereditary fructose intolerance (HFI) is an autosomal recessive disease that results in deficiency of the enzyme aldolase B, which contributes to the onset of gastrointestinal and metabolic symptoms, triggered by the ingestion of foods high in fructose, sucrose or sorbitol. Methodology: For the accomplishment of such a study a search of the literature was done from August to September of the year 2018 with publication period of a maximum of 10 years. The theoretical reference was elaborated through the collection of relevant scientific articles on the subject, made in the electronic databases: Scientific Electronic Library Online (SciELO), Pubmed, EBSCOhost and CAPES, from descriptors generated by DeCS: "Fructose Intolerance"; "Child" and its correspondents in English. Thus, 81 articles were obtained and, from the title of the literature and its abstracts, were used. 19 Ademias, articles that were related to the topics covered in this study or whose sample was not composed by humans were also discarded. The diagnosis of HFI is based on the suggestive clinical picture initiated after the ingestion of the fructose, sucrose and sorbitol already mentioned, associated with the use of invasive and noninvasive examinations, but the confirmation is based on the response to the improvement of the symptoms after the restriction of the ingestion of such food, which constitutes the best therapy. Conclusion: Based on the consequences of inadequate management of HFI, it is of fundamental importance that the affected children have an early diagnosis, associated with an adequate nutritional monitoring, which enables an improvement in the quality of life of these individuals, besides preventing important repercussions such as renal and hepatic impairment. Keywords: Hereditary Intolerance to Fructose, Child and Diet

scholarly journals Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance

Nutrients ◽  
2019 ◽  
Vol 11 (10) ◽  
pp. 2397 ◽  
Author(s):  
Di Dato ◽  
Spadarella ◽  
Puoti ◽  
Caprio ◽  
Pagliardini ◽  
...  
Keyword(s):  
Liver Injury ◽  
Genetic Disorder ◽  
Liver Steatosis ◽  
Daily Intake ◽  
Young Patients ◽  
Hereditary Fructose Intolerance ◽  
Fructose Intake ◽  
Fructose Intolerance ◽  
Carbohydrate Deficient Transferrin ◽  
Aldolase B

Background: Hereditary fructose intolerance (HFI) is a rare genetic disorder of fructose metabolism due to aldolase B enzyme deficiency. Treatment consists of fructose, sorbitol, and sucrose (FSS)-free diet. We explore possible correlations between daily fructose traces intake and liver injury biomarkers on a long-term period, in a cohort of young patients affected by HFI. Methods: Patients’ clinical data and fructose daily intake were retrospectively collected. Correlations among fructose intake, serum alanine aminotransferase (ALT) level, carbohydrate-deficient transferrin (CDT) percentage, liver ultrasonography, genotype were analyzed. Results: We included 48 patients whose mean follow-up was 10.3 ± 5.6 years and fructose intake 169 ± 145.4 mg/day. Eighteen patients had persistently high ALT level, nine had abnormal CDT profile, 45 had signs of liver steatosis. Fructose intake did not correlate with ALT level nor with steatosis severity, whereas it correlated with disialotransferrin percentage (R2 0.7, p < 0.0001) and tetrasialotransferrin/disialotransferrin ratio (R2 0.5, p = 0.0001). p.A150P homozygous patients had lower ALT values at diagnosis than p.A175D variant homozygotes cases (58 ± 55 IU/L vs. 143 ± 90 IU/L, p = 0.01). Conclusion: A group of HFI patients on FSS-free diet presented persistent mild hypertransaminasemia which did not correlate with fructose intake. Genotypes may influence serum liver enzyme levels. CDT profile represents a good marker to assess FSS intake.

scholarly journals Fructosuria and recurrent hypoglycemia in a patient with a novel c.1693T>A variant in the 3′ untranslated region of the aldolase B gene

2019 ◽  
Vol 7 ◽  
pp. 2050313X1882309
Author(s):  
Martha Catalina Morales-Alvarez ◽  
Maria Laura Ricardo-Silgado ◽  
Hernan Nicolas Lemus ◽  
Deyanira González-Devia ◽  
Carlos O Mendivil
Keyword(s):  
Untranslated Region ◽  
Stop Codon ◽  
Glucose Monitoring ◽  
Repeated Measurements ◽  
Hereditary Fructose Intolerance ◽  
Dietary Fructose ◽  
Fructose Intolerance ◽  
Exon 9 ◽  
Aldolase B ◽  
Hydrolysis Of

Hereditary fructose intolerance, caused by mutations in the ALDOB gene, is an unusual cause of hypoglycemia. ALDOB encodes the enzyme aldolase B, responsible for the hydrolysis of fructose 1-phosphate in the liver. Here, we report the case of a 33-year-old female patient who consulted due to repetitive episodes of weakness, dizziness and headache after food ingestion. An ambulatory 72-h continuous glucose monitoring revealed multiple short hypoglycemic episodes over the day. After biochemical exclusion of other endocrine causes of hypoglycemia, hereditary fructose intolerance seemed a plausible diagnosis. Repeated measurements of urinary fructose revealed pathologic fructosuria, but genetic testing for the three most common mutations in ALDOB resulted negative. We decided to perform complete Sanger sequencing of the ALDOB gene and encountered a variant consisting of a T>A substitution in position 1963 of the ALDOB transcript (c.1693T>A). This position is located within the 3′ untranslated region of exon 9, 515 nucleotides downstream the stop codon. After complete withdrawal of dietary fructose and sucrose, the patient presented no new hypoglycemic episodes.

Mutation of aldolase B genes in hereditary fructose intolerance

The Lancet ◽  
1990 ◽  
Vol 335 (8693) ◽  
pp. 856 ◽  
Author(s):  
M. De Souza ◽  
R. Lindeman ◽  
F. Volpato ◽  
R.J. Trent ◽  
R. Kamath
Keyword(s):  
Hereditary Fructose Intolerance ◽  
Fructose Intolerance ◽  
Aldolase B

scholarly journals Hospital admission flow and nutritional support in a cohort of pediatric patients with COVID-19

2021 ◽  
Vol 21 (suppl 1) ◽  
pp. 287-292
Author(s):  
Aline Pereira Queiroz ◽  
Caroline dos Santos ◽  
Greice Milena Sant'Ana Reis ◽  
Paulo Sergio Carvalho Matos ◽  
Rogério dos Santos e Santos ◽  
...  
Keyword(s):  
Medical Records ◽  
Secondary Data ◽  
Hospital Level ◽  
Nutritional Care ◽  
Hospital Units ◽  
Individual Protection ◽  
Care Practices ◽  
Nutritional Monitoring ◽  
Made In

Abstract In view of the current panorama of hospital nutritional care, it is necessary to review nutritional care practices in hospital units, in order to ensure nutritional monitoring and quality of care. Therefore, it is necessary to build flows of nutritional assistance practices at the pediatric hospital level, based on the recommendations of the Federal Council of Nutritionists and the Brazilian Society of Parenteral and Enteral Nutrition, aiming at not generating a deficit in the nutritional monitoring of the patient and in reducing the risk of contamination of the professional. When individual protection equipment is available, nutritional admission will be made in person and during hospitalization, monitoring can be performed using secondary data from electronic medical records and / or telecommunication with the multidisciplinary team. The implementation of nutritional routines in hospitals in times of Covid-19 pandemic generates more assertive conducts for the prevention and treatment of malnutrition and other nutritional implications, also guaranteeing the safety of professionals in assistance in pediatric units..

scholarly journals Number of cases of hepatitis acquired in occupational accidents in Brazil between 2009 and 2018

2020 ◽  
pp. 28-37
Author(s):  
Naara Perdigão Cota de Almeida ◽  
Idelbrando Araújo Lima Júnior ◽  
Lucas do Rêgo Góes Azevedo ◽  
Romulo Maia Martins ◽  
Gustavo Aurélio Linhares Magalhães ◽  
...  
Keyword(s):  
Viral Hepatitis ◽  
Public Health Problem ◽  
Epidemiological Data ◽  
Incidence Rates ◽  
Occupational Accidents ◽  
The Subject ◽  
Compulsory Notification ◽  
Effective Contribution ◽  
Made In

Viral hepatitis is a serious public health problem in the world and in Brazil. These are diseases of compulsory notification instituted by the Brazilian Ministry of Health (MS). The records of the affected persons should be made in the Notifiable Diseases Information System (SINAN), which should notify all probable cases, confirmed and outbreaks. The objective of this work is to quantify the number of cases of hepatitis acquired in occupational accidents in Brazil between 2009 and 2018. It is a study is a retrospective observational quantitative analysis of the epidemiological data investigated. In this sense, research was carried out in the databases of the national portal DATASUS (https://datasus.saude.gov.br/). There is an effective contribution of accidents at work to the current incidence rates of viral hepatitis in Brazil, as well as to the reduction of the quality of life of workers – especially those of health. Inconsistencies between epidemiological data recorded in SINAN and studies in the literature may demonstrate the presence of underreporting. Due to the relative scarcity and contradiction of studies, there is no well-established profile for contamination in health services, and there is a need for further studies on the subject.

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