Introduction Gaucher disease (GD) is an inherited recessive enzyme deficiency with a multisystem condition. The Iranian government covers the therapeutic expenditure of GD patients as it is not affordable for the patients. The aim of this study is to identify the main components of the cost of care in Gaucher patients (GPs) in Iran. Methods The Gaucher patients were identified from the Iran Food and Drug Administration (IFDA) national registry database. The direct medical costs, including medication, diagnostic services, and physician visits were considered. The prices of therapeutic and diagnostic services were extracted from Iranian medical tariff book 2014-15. Iran Food and Drug Administration determined the cost of medications. Results 164 Gaucher patients have been registered in Iran. A valid and reliable diagnostic tests are not used to identify the type of GD. The average health care cost per annum was 20,758 USD per patient, which is higher than 4 GDP per capita in Iran. Medication cost constitutes 95.2% of the total cost. The average cost of each GP was $1,473,818 in his/her total life. Conclusion GD is amongst the high-cost diseases and should be managed effectively. The application of oral medication for eligible GPs could improve allocative efficiency in GD management significantly. A sound, valid and reliable national clinical guideline could improve the efficiency of healthcare resources effectively. Selecting appropriate strategies for reducing the birth of a child with Gaucher, could support allocative efficiency of the limited resources effectively.
Fanconi-Bickel syndrome is an extremely rare hereditary metabolic disease, characterized by hepatomegaly due to glycogen storage, refractory hypophosphatemic rickets, marked growth retardation and proximal renal tubular acidosis. Recurrent bone fractures are one of the hallmark findings. It is a single gene disorder; the responsible gene belongs to the facilitative glucose transporters 2 (GLUT2) family gene or (SLC2A2) mapped to the q26.1-26.3 locus on chromosome 3, and encodes the GLUT protein 2. This protein is expressed in pancreatic ί-cells, hepatocytes, renal tubules, and intestinal mucosa. Several mutations in the GLUT2 gene have been reported in different ethnicities. Herein we report an Iranian girl with a missed diagnosis of osteogenesis imperfecta. She was referred with the history of frequent fractures, and severe motor delay and was suspected to osteogenesis imperfecta. Following the case we detected refractory rickets instead of OI, sever growth failure, proximal renal tubulopathy and RTA, and enlarged kidneys, progressive hepatomegaly, and GSD on liver biopsy. Glucose and galactose tolerance tests confirmed abnormal carbohydrate metabolism. Molecular analysis on GLUT2 gene revealed a homozygous novel mutation in exon 5; it was 15 nucleotide deletion and 7 nucleotide insertion and caused a frame shift mutation, produced a premature truncated protein (P.A229QFsX19). This mutation has not been reported before in the relevant literature.
Fanconi-Bickel syndrome-the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature [2] Fanconi-Bickel syndrome-a congenital defect of facilitative glucose transport [3] Fanconi-Bickel syndrome [4] Diabeteslike renal glomerular disease in Fanconi-Bickel syndrome [5] Hepato-renal glycogenosis with complex tubulopathy. 2. Cases of a new entity [6] Sequence, tissue distribution, and chromosomal localization of mRNA encoding a human glucose transporterlike protein [7] Organization of the human GLUT2 (pancreatic beta-cell and hepatocyte) glucose transporter gene [8] Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome [9] The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome Introduction Fanconi-Bickel disease is a rare disorder in the metabolism of carbohydrates. The disease is transmitted by heredity recessive autosomi. Somebodies have classified this diease as a glycogenosis that does not appear to be correct, because the cause of this disease not a disorder in the metabolism of glycogen, realy it is due to impairment of saccarides transfer into the membranous GLUT2 channel. The properties consist of: hepatorenal glycogenose, proximal RTA, impaired glucose and galactose consumption, manage resistant hypophosphatemic rickets and delay the growth resulting from it. But being non-typical cues could wrongly lead to another initial diagnosis like osteogenesis imperfecta. Patient Information 3.5-year-old girl with the probable diagnosis of osteogenesis imperfecta was admitted for periodical treatment by pamydronat. The child resulting from consanguineous marriages and in history of pregnancy and maternity there was not any problem. Because of the delay in motion and repeated fractures, suspicion to osteogenesis imperfecta disease was initially raised. In the follow up of the next turned the patient revealed resistant rickets. Gradually hepatomegaly appearead and the biopsy emphasized glycogen accumulation. Then gradually renal affliction-fanconi syndrome and RTA-were revealed. Conclusion According to the mentioned symptoms, the very rare diseases Fanconi-Bickel syndrome was raised for the patient. By molecular Study on operating gene called Glucose transporter 2 (GLUT2), this disease was confirmed. This type of mutant is recognized for the first time that has not already been reported in medical resources.
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