Hereditary fructose intolerance ( HFI ) is an inborn error of fructose metabolism caused by a deficiency of the enzyme aldolase B . Individuals affected with HFI are asymptomatic until they ingest fructose, sucrose, or sorbitol . If fructose is ingested, the enzymatic block at aldolase B causes an accumulation of fructose-1-phosphate which, over time, results in the death of liver cells. This accumulation has downstream effects on gluconeogenesis and regeneration of adenosine triphosphate (ATP). Symptoms of HFI include vomiting, convulsions, irritability, poor feeding as a baby, hypoglycemia , jaundice , hemorrhage , hepatomegaly , hyperuricemia and potentially kidney failure . There are reported deaths in infants and children as a result of the metabolic consequences of HFI. Death in HFI is always associated with problems in diagnosis.
32-575: HFI may refer to: Businesses and organisations [ edit ] Hereditary fructose intolerance , a metabolic deficiency HFI Flooring Inc , a Canadian company Hamfest India , an amateur radio convention Handball Federation of India Holy Family Institute Government [ edit ] Healthy Forests Initiative , a US federal law Horizontal fiscal imbalance , in macroeconomics Human Freedom Index , in human rights Other uses [ edit ] High Frequency Instrument, aboard
64-465: A clinically benign condition characterized by the excretion of unmetabolized fructose in the urine. Fructose-1-phosphate is metabolized by aldolase B into dihydroxyacetone phosphate and glyceraldehyde . HFI is caused by a deficiency of aldolase B. A deficiency of aldolase B results in an accumulation of fructose-1-phosphate, and trapping of phosphate (fructokinase requires adenosine triphosphate (ATP)). The downstream effects of this enzyme block are
96-429: A constant global health concern for a number of years, resulting in significant social and economic impacts on individuals with malignancy and their families. The risk of developing malignancy is 20.2%. In 2018, 18 million patients were diagnosed with a malignant tumour with lung, breast and prostate being the most common form. Additionally, there were approximately 10 million mortalities due to cancer in 2020 and, there
128-505: A history of cancer in the family. Other risk factors include developing post-transplant malignancy which occurs subsequent to solid organ transplantations . Individuals who undergo organ transplant surgery have an increased risk of developing malignancy in comparison to the general population. The most common form of malignancy being " nonmelanoma skin cancer and, posttransplant lymphoproliferative disorders ". The different types of malignancy developed post-transplant depend on which organ
160-404: A laboratory. If detected as a malignant tumour, treatment is necessary; treatment during early stages is most effective. Forms of treatment include chemotherapy, surgery, photoradiation, and hyperthermia, amongst various others. When malignant cells form, symptoms do not typically appear until there has been a significant growth of the mass. Once signs and symptoms do arise, they are dependent on
192-417: A non-cancerous benign tumor in that a malignancy is not self-limited in its growth, is capable of invading into adjacent tissues, and may be capable of spreading to distant tissues. A benign tumor has none of those properties, but may still be harmful to health. The term benign in more general medical use characterizes a condition or growth that is not cancerous, i.e. does not spread to other parts of
224-405: A role in controlling or reducing malignancy growth rather, they increase the patient's quality of life. Hematoporphyrin derivative (HPD) is a drug which was developed to be absorbed by malignant cells and only becomes active when exposed to light. It is commonly used to identify and localise cancers as when it is under activation of blue light the red fluorescence of the malignant tumour (due to
256-405: A role in the development of malignancy, with agents of infectious disease being able to produce a multitude of malignant cells. These include bacterial causes, fungal and parasitic causes and, viral causes. Bacteria , fungi and similar pathogens have the ability to form an environment within states of chronic inflammation which gives rise to oncogenic potential. Viral agents are able to assist
288-447: Is a cytotoxic agent which holds the ability to eradicate malignant cells by preventing both nucleic acid and protein synthesis . The treatment process also utilises HPD's capability of accumulating at higher levels in malignant tissues compared to most other tissues. In the case of deeply pigmented or larger tumours, a stronger course of this treatment process is required in order to be effective. Malignancy can be treated through
320-504: Is affected indirectly and/or through multiple pathways. The combination of these intracellular changes means there is no specific target of cell death in the hyperthermic process. Chemotherapy is commonly used as either the primary treatment or in conjunction with other treatment forms such as radiotherapy or surgery. It can be administered through "injection, intra-arterial (IA), intraperitoneal (IP), intrathecal (IT), intravenous (IV), topical or oral". The purpose of chemotherapy
352-459: Is an overall trend which demonstrated that malignant mortality has increased by 28% over the past 15 years. Lung cancer has the highest mortality rate in comparison to other forms of cancer, with the leading cause of development due to smoking. The number of smokers in China is rapidly increasing with tobacco killing approximately 3000 people each day. The diagnosis of lung cancer is most common within
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#1732858386401384-532: Is different from Wikidata All article disambiguation pages All disambiguation pages Hereditary fructose intolerance HFI is an autosomal recessive condition caused by mutations in the ALDOB gene, located at 9q31.1. HFI is typically suspected based on dietary history, especially in infants who become symptomatic after breast feeding. This suspicion is typically confirmed by molecular analysis Treatment of HFI involves strict avoidance of fructose in
416-461: Is replaced in the diet by glucose , maltose or other sugars. Management of patients with HFI often involves dietitians who have a thorough knowledge of what foods are acceptable. Benign Malignancy (from Latin male 'badly' and -gnus 'born') is the tendency of a medical condition to become progressively worse; the term is most familiar as a characterization of cancer . A malignant tumor contrasts with
448-464: Is to use cytotoxic agents which kill rapidly dividing cells within the body. It targets the cellular mechanisms which allow the development of malignancy throughout the body. There are no specific areas which are targeted and so, there is a lack of differentiation between normal and malignant cells, resulting in a range of side effects. This includes bone marrow suppression , gastrointestinal problems and alopecia . Some side effects are specific to
480-546: The Planck spacecraft Human factors integration , in engineering Topics referred to by the same term [REDACTED] This disambiguation page lists articles associated with the title HFI . If an internal link led you here, you may wish to change the link to point directly to the intended article. Retrieved from " https://en.wikipedia.org/w/index.php?title=HFI&oldid=1220082511 " Category : Disambiguation pages Hidden categories: Short description
512-467: The HPD) can be observed easily. The combination of HPD with red light (photoradiation) has been used on various malignant tumours including malignant melanomas and carcinomas on a range of different organs including the breast and colon. This form of treatment produces a singlet oxygen through the photodynamic process; where the oxygen molecule exists in an electronically excited state. The singlet oxygen
544-714: The anticancer drug used, the most common being bone marrow suppression as bone marrow has the ability to divide rapidly due to high growth fraction. This is because anticancer drugs have the highest activity in high growth fraction tissues. Alkylating agents are used in chemotherapy as these are chemically reactive drugs which form covalent bonds when reacting with DNA. This results in breaks within DNA strands causing either inter-strand or intra-strand DNA cross-linking. The sub-classes of alkylating agents are " nitrogen mustards , oxazaphosphorines, alkyl alkane, sulphonates, nitrosoureas , tetrazines and aziridines ." Malignancy has been
576-706: The body or invade nearby tissue. Sometimes the term is used to suggest that a condition is not dangerous or serious. Malignancy in cancers is characterized by anaplasia , invasiveness, and metastasis . Malignant tumors are also characterized by genome instability , so that cancers, as assessed by whole genome sequencing , frequently have between 10,000 and 100,000 mutations in their entire genomes. Cancers usually show tumour heterogeneity , containing multiple subclones. They also frequently have reduced expression of DNA repair enzymes due to epigenetic methylation of DNA repair genes or altered microRNAs that control DNA repair gene expression. Tumours can be detected through
608-810: The diet. Older patients with HFI typically self-select a diet low in fructose, even before being diagnosed. The key identifying feature of HFI is the appearance of symptoms with the introduction of fructose to the diet. Affected individuals are asymptomatic and healthy, provided they do not ingest foods containing fructose or any of its common precursors, sucrose and sorbitol . In the past, infants often became symptomatic when they were introduced to formulas that were sweetened with fructose or sucrose. These sweeteners are not common in formulas used today. Symptoms such as vomiting, nausea, restlessness, pallor, sweating, trembling and lethargy can also first present in infants when they are introduced to fruits and vegetables. These can progress to apathy, coma and convulsions if
640-544: The disease has usually progressed for a number of years before detection. Surgery can help manage or treat malignancy by either removing the tumour, localising it and/or determining whether there has been a spread to other organs. When undertaking surgery for malignancy, there are six major objectives which are considered. These include "prevention of cancer, diagnosis and staging of disease, disease cure, tumour debulking, symptom palliation and patient rehabilitation". Surgical prevention of cancer largely consists of removing
672-405: The formation of a lump . Signs and symptoms specific to males include pain or growths in the scrotum or difficulty urinating. Malignant cells often evolve due to a combination of reasons rather than one definitive reason. Reasons which can explain their development include genetics and family history, triggers such as infectious diseases, and exposure to risk factors. Infectious diseases play
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#1732858386401704-423: The formation of malignant tumours due to a mechanism of cell transformation. This cell transformation can occur through either "DNA integration or cellular-DNA alteration of growth regulator genes". Inflammation can also play a role in triggering malignancy as it can promote stages of tumour formation. The main purpose of inflammation is to repair tissue, defend the body against pathogens and regenerate cells. At
736-752: The inhibition of glucose production and reduced regeneration of ATP. Because of the ease of therapy (dietary exclusion of fructose), HFI can be effectively managed if properly diagnosed. In HFI, the diagnosis of homozygotes is difficult, requiring a genomic DNA screening with allele -specific probes or an enzyme assay from a liver biopsy . Once identified, parents of infants who carry mutant aldolase B alleles leading to HFI, or older individuals who have clinical histories compatible with HFI can be identified and counselled with regard to preventive therapy: dietary exclusion of foods containing fructose, sucrose, or sorbitol. If possible, individuals who suspect they might have HFI should avoid testing via fructose challenge as
768-677: The location, size and type of malignancy. Usually, it is quite general and can be associated with other illnesses or diseases and thus, can be difficult to diagnose or can be misdiagnosed. Signs include observable or measurable aspects such as weight loss (without trying), a fever or unusual bleeding. On the other hand, symptoms are felt internally by the individual such as fatigue or changes in appetite. A general list of common signs and symptoms includes pain (headaches or bone aches), skin changes (new moles or bumps), coughing and unusual bleeding. There are also signs and symptoms specific to females including belly pain and bloating or breast changes i.e.,
800-444: The malignant tumour has only invaded one area of the body. The objective is to remove the entirety of the malignant cells without violating the tumour; if the tumour is violated, the risk of both tumour spillage and wound implantation would increase. The surgical procedure of tumour debulking can be undertaken to increase the effectiveness of postoperative forms of treatment. Symptom palliation and patient rehabilitation do not play
832-626: The organ at risk of developing malignancy. This would occur if an individual is predisposed to the formation of malignant cells as a result of inherited genetic mutations and, acquired diseases. Surgical diagnosis of malignancy involves completing a biopsy . This process requires a sufficient amount of tissue to make a confident diagnosis and, the handling of specimen to expand information provided from testing. Biopsies are categorised into four different processes: "fine-needle aspirate (FNA), core needle, incisional and, excisional". Curative surgery (also known as primary surgery) can be conducted when
864-457: The results are non-conclusive for individuals with HFI, and even if the diagnostic administration of fructose is properly controlled, profound hypoglycemia and its sequelae can threaten the patient's well-being. Treatment of HFI depends on the stage of the disease, and the severity of the symptoms. Stable patients without acute intoxication events are treated by careful dietary planning that avoids fructose and its metabolic precursors. Fructose
896-502: The same time, inflammatory cells can also interact with malignant cells to form an inflammatory tumour microenvironment . This environment increases the likelihood of forming malignant cells through blockage of anti-tumour immunity. Once this occurs, the inflammatory tumour microenvironment begins to send out tumour-promoting signals to epithelial cells, triggering the formation of malignant cells. Traditional risk factors of developing malignancy include smoking, sun exposure and, having
928-405: The source is not recognized early. When patients are diagnosed with HFI, a dietary history will often reveal an aversion to fruit and other foods that contain large amounts of fructose. Most adult patients do not have any dental caries . After ingestion, fructose is converted to fructose-1-phosphate in the liver by fructokinase . Deficiencies of fructokinase cause essential fructosuria ,
960-407: The use of hyperthermia by applying either surgical perfusion or interstitial techniques to the body. The use of this treatment type largely depends on the fact that malignant and normal cells have differing responses to the energy source used. This dependency is due to the intracellular changes which occur during hyperthermia; as the nucleic acids , cell membrane and cytoskeleton within each cell
992-408: The visualisation or sensation of a lump on the body. In cases where there is no obvious representation of a lump, a mammogram or an MRI test can be used to determine the presence of a tumour. In the case of an existing tumour, a biopsy would then be required to make a diagnosis and distinguish whether the tumour is malignant or benign. This involves examination of a small sample of the tissue in
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1024-617: Was transplanted. This is linked to recipients being at a higher risk when exposed to traditional risk factors as well as, the type and intensity of the operation, the duration of their immunosuppression post-operation and, the risk of developing oncogenic viral infections. There are various treatment forms available to help manage malignancy. Common treatments include chemotherapy , radiation and surgical procedures. Photoradiation and hyperthermia are also used as treatment forms to kill or reduce malignant cells. A large portion of patients are at risk of death when diagnosed with malignancy as
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