It is caused by homozygous or compound heterozygous mutations within glut2, the gene encoding the most important facilitative glucose transporter in hepatocytes, pancreatic bcells, enterocytes, and renal tubular cells. Because people with fanconi bickel syndrome have trouble moving glucose throughout the body, limiting galactose prevents the buildup of glucose and glycogen in the liver and kidneys. Fanconi bickel syndrome omim 227810 also sometimes known as glycogen storage disease, type xi is a rare disorder of monosaccharide transport. This causes symptoms such as having weakened bones, being very small for ones age. Fanconibickel syndrome is a rare autosomalrecessive disorder caused by defects in the facilitative glucose transporter 2. Fanconi syndrome genitourinary disorders msd manual. It is associated with glut2, a glucose transport protein which, when functioning normally, allows glucose to exit several tissues, including the liver, nephrons, and enterocytes of the. Fanconibickel syndrome fbs, also known as glycogen storage disease type xi gsd xi, is a rare autosomal recessive disorder of. Fanconi bickel syndrome genetic and rare diseases information. They may present with symptoms of bone disease osteomalacia and muscle weakness. A fouryearold girl presented with severe growth retardation, genu varum and hepatomegaly.
An indian girl with fanconibickel syndrome without. Fanconi syndrome is a disorder of the renal proximal tubules that results in decreased reabsorption of phosphorus, glucose, and amino acids, accompanied by metabolic acidosis secondary to proximal tubular bicarbonate wasting type ii renal tubular acidosis. Fanconibickel syndromea congenital defect of facilitative. Fanconibickel syndrome fbs is a rare autosomal recessive disorder of carbohydrate metabolism recently demonstrated to be caused by mutations in glut2, the gene for.
Descriptionalso known as glycogen storage disease type xi, the disease was first described by scientists g. We report a young boy presented as hypophosphatemic rickets with hepatomegaly and subsequently diagnosed as fbs. Fanconi syndrome kidney and urinary tract disorders msd. Hepatorenal glycogenosis with renal fanconi syndrome. This defect in the basenji is thought to be the result of a metabolic or membrane defect dibartola 2006. This causes symptoms such as having weakened bones, being very small for ones age failure to thrive, and a specific type of kidney malfunction called renal tubular dysfunction. In acquired fanconi syndrome, adults present with the laboratory abnormalities of renal tubular acidosis proximal type 2see table.
Gene name has been proposed because fan1 protein interacts with fanconi anemia fa pathway proteins. Fanconi syndrome is a rare disorder of kidney tubule function that results in excess amounts of glucose, bicarbonate, phosphates phosphorus salts, uric acid, potassium, and certain amino acids being excreted in the urine. Inherited fanconi syndrome is most common in basenjis. Fanconi bickel syndrome fbs, omim 227810 is a rare type of glycogen storage disease gsd. Fanconi bickel syndrome fbs is a rare autosomal recessive disorder of carbohydrate metabolism recently demonstrated to be caused by mutations in glut2, the gene for the glucose transporter protein 2 expressed in liver, pancreas, intestine and kidney. Fanconi syndrome endocrinologygastroenterology rachel v. Inherited forms mainly present in childhood and may be due to genetic diseases including galactosemia, wilson disease, cystinosis, lowe syndrome, and hereditary fructose intolerance 1,2. Bone marrow failure usually results in decreased production of all blood cells. Fanconibickel syndrome the original patient and his natural. Fanconi syndrome occurs when the renal tubules of the kidney are unable to properly absorb electrolytes and nutrients sodium, potassium, glucose, phosphate, bicarbonate, and amino acids back into the body.
Fanconi bickel syndrome fbs is a rare inherited glycogen storage disease gsd caused by defects in facilitative glucose transporter glut2 gene that. Feb 27, 2017 people with fanconi bickel syndrome may also have low levels of phosphate and high levels of cholesterol in the blood. Fanconi syndrome kidney and urinary tract disorders merck. Fanconibickel syndrome is a rare but welldefined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction. A case of neonatal onset, abstract a male newborn infant was recognized having fanconi bickel syndrome fbs in the neonatal period. Fanconi bickel disease, also known as glycogen storage disease gsd type xi, is a rare inherited disorder which is inherited in an autosomal recessive pattern. Fanconibickel syndromea congenital defect of facilitative glucose transport. It is also known for guido fanconi and horst bickel, who first described it in 1949 it is associated with glut2, a glucose transport protein. Affected patients have rickets, aminoaciduria, phosphaturia, growth failure, hepatomegaly, and fasting hypoglycemia. A 17monthold female child presented with severe growth retardation and abdominal distention. Fanconi bickel syndrome fbs is a rare condition characterized by the accumulation of a substance called glycogen in different parts of the.
Characterized by massive hepatomegaly due to glycogen accumulation, severe hypophosphatemic rickets, and marked growth retardation due to proximal renal tubular dysfunction. The presenting clinical findings were hyperglycemia and polyuria detected during an episode of acute enteritis. Fanconibickel syndrome the original patient and his. The accumulation of glycogen can also cause swelling of the liver and spleen hepatosplenomegaly. Fanconi syndrome is a progressive condition that can affect the kidneys of both dogs and cats. The fanconi bickel syndrome is a defined clinical entity which is distinguished from other inherited metabolic diseases by complex defects of renal tubular transport and other forms of glycogenosis. The disease is usually diagnosed in infancy and is characterized by hepatomegaly, glucose and galactose intolerance, fasting hypoglycemia, short stature, proximal renal tubular dysfunction, and often rickets. Fanconi syndrome causes, symptoms, treatment and prognosis. Fanconi syndrome in dogs symptoms, causes, diagnosis. The authors report the case of a patient who had fanconi syndrome, nephrogenic diabetes insipidus, and acute renal failure during treatment with tenofovir, a nucleotide reverse transcriptase inhibitor that recently has.
Mistargeting of peroxisomal ehhadh and inherited renal fanconi s syndrome. Some features of different types of renal tubular acidosis, hypophosphatemia, and hypokalemia. This rare disease causes kidneys and liver to enlarge by the second year of life, giving rise to lifethreatening consequences. It is recommended that people with fanconi bickel syndrome follow a galactoserestricted diet. Because no underlying enzymatic defect in carbohydrate metabolism had been identified and because metabolism of both glucose. Here we report a follow up of this original patient over more than 50 years. Feb 24, 2015 fanconi renotubular syndrome 1, frts1. Fanconi syndrome usually occurs with another hereditary disorder, such as cystinosis. Fanconi bickel syndromedefinitionfanconi bickel syndrome fbs is a rare inherited disorder of carbohydrate metabolism caused by mutations in the gene known as glut2. It affects 10% to 30% of the breed ettinger and feldman 2010. The treatment was started with 25 hydroxy vitamin d 0. Galactose is a substance that is broken down into glucose. If a diagnosis of fanconi bickel syndrome is suspected, it can be confirmed with genetic testing of the slc2a2 gene.
Fanconi syndrome definition of fanconi syndrome by medical. It is also known for guido fanconi and horst bickel, who first described it in 1949. Fanconi syndrome basenji type fs is caused by a mutation in fan1 gene fanconi anemiaassociated nuclease 1, which is a part of the myotubularin gene family of tyrosine phosphatases. Feb 09, 2018 fanconi bickel syndrome can be confused with type i glycogen storage disease, which is caused by a deficiency in glucose6phosphatase activity. The disease is the result of an issue with the proximal renal tube and occurs in about one tenth of adult basenjis. Fanconibickel syndrome in two palestinian children. The fanconi bickel syndrome fbs, originally described in 1949, is a rare, welldefined clinical entity that is inherited in an autosomal recessive mode.
Glycogen storage disease type xi is a form of glycogen storage disease. Pdf fanconibickel syndrome dr mohandas nair karippoth. Pdf fanconibickel syndrome,a glycogen storage disorder, is a rare disease. Online mendelian inheritance in man omim hall am, bass p, unwin rj. Fanconibickel syndrome fbs is a rare autosomal recessive disorder of carbohydrate metabolism recently. It is also known for guido fanconi and horst bickel, who first described it in 1949 it is associated with glut2, a glucose transport protein which, when functioning normally, allows glucose to exit several tissues, including the liver, nephrons, and enterocytes of the intestines, and enter the blood. Fanconibickel syndrome fbs is a rare autosomal recessive disorder of carbohydrate metabolism. We present the first mutation proven case of fanconi bickel syndrome, a rare type of glycogen storage disease, from india. Fanconi bickel syndrome a rare autosomal recessive condition omim. Pdf we present here the first case of fanconibickel syndrome, a rare type of glycogen. Fanconibickel syndrome fbs is a rare autosomal recessive disorder of carbohydrate metabolism recently demonstrated to be caused by mutations in glut2, the gene for the glucose transporter. Not often seen, primary fanconi syndrome is a genetic kidney disease of basenji dogs that appears in adulthood on average between 4 and 8 years of age and is autosomaldominant. Fanconi bickel syndrome is a rare but welldefined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose manz et al. Introduction fanconi bickel syndrome fbs is a rare autosomal recessively.
Fanconibickel syndrome fbs is a singlegene disorder omim 227810 caused by defects in the facilitative glucose transporter 2 glut2 or slc2a2 gene mapped on chromosome. Abnormal cystine deposits cause eye disorders, an enlarged liver. Gp287 fanconi bickel syndrome and renal tubular dysfunction. Fanconibickel syndrome definition of fanconibickel. Wed like to understand how you use our websites in order to improve them. Fanconibickel syndrome a congenital defect of facilitative. Fanconi syndrome is unrelated toand should not be confused. See also introduction to disorders of kidney tubules. Fanconibickel syndrome fbs is a rare inherited glycogen storage disease gsd caused by defects in facilitative glucose. People with fanconi bickel syndrome tend to have low blood sugar hypoglycemia between meals. Fanconi anemia is a rare disorder characterized by progressive bone marrow failure, various congenital abnormalities, and predisposition to malignancies often acute myeloid leukemia. This latter group of patients present in the newborn period, or shortly thereafter, with severe hypoglycemia and lactic acidosis.
Jun 06, 2012 fanconibickel syndrome fbs is an example of proximal rta due to a single gene disorder. Fanconi syndrome and renal failure induced by tenofovir. Lowdose adefovir dipivoxil may induce fanconi syndrome. It is caused by homozygous or compound heterozygous mutations within glut2, the gene encoding the most important facilitative glucose transporter in hepatocytes, pancreatic betacells, enterocytes, and renal tubular cells. Fanconi bickel syndrome fbs is a rare variety of glycogen storage disease gsd. Fanconi bickel syndrome is characterized by the accumulation of glycogen in the liver and kidneys. Fanconibickel syndrome fbs is a singlegene disorder omim 227810 caused by defects in the facilitative glucose transporter 2 glut2 or slc2a2 gene mapped on chromosome 3q26. Fanconibickel syndrome as an example of marked allelic.
The disease was first described in a 3yearold swiss boy in 1949. K c chaudhuri foundation 2014 abstract fanconi bickel syndrome fbs is a rare autosomal recessive disorder of carbohydrate metabolism. Fanconi bickel syndrome fbs is a rare autosomal recessive disorder of carbohydrate metabolism recently demonstrated to be caused by mutations in glut2, the gene for the glucose transporter. It is caused by mutations in glut2 slc2a2, the gene encoding the glucose transporter protein2, a member of the facilitative glucose transporter family. Although nephrotoxicity of cidofovir and adefovir is well established, no renal side effects have been observed yet with tenofovir, which is the third member of this family. We present here the first case of fanconi bickel syndrome, a rare type of glycogen storage disease, from india.
Fanconi bickel syndrome results due to mutation in the glut2 gene which leads to carbohydrate metabolism. Clinical, biochemical, functional and morphological data are presented in nine infants, children and adults, with fanconi bickel syndrome. Cystinosis is an inherited disorder of amino acid metabolism characterized by abnormal deposits of the amino acid cystine throughout the body and abnormal concentrations of cystine in the urine. Fanconi syndrome may occur in either inherited or acquired forms.
1359 522 743 833 589 1071 333 768 1487 859 130 778 6 336 861 1358 1032 1345 406 655 474 4 293 898 1337 530 1038 1574 565 972 288 896 1279 1383 719 915 286