Fanconibickel syndrome and autosomal recessive proximal. Pdf we present here the first case of fanconibickel syndrome, a rare type of glycogen storage disease, from india. Fanconi bickel syndrome fbs, omim 227810 is a rare type of glycogen storage disease gsd. 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.
The authors report a case of fbs presenting at 4 y of age whose correct diagnosis led to avoidance of the liver transplant. Elevated glucose levels have been detected in some patients under 1 year of age and fbs should thus be. 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. See also introduction to disorders of kidney tubules. Gp287 fanconi bickel syndrome and renal tubular dysfunction.
Fanconibickel syndrome case report introduction a fouryearold girl, third child of third degree consan guineous parents, born at term with a birth weight of 2. Renal tubular dysfunction is characterized by a specific pattern of impaired proximal. Fanconi bickel syndrome, can lead to very different clinical and biochemical findings that are not limited to mild proximal renal tubulopathy but can include significant hypercalciuria and highly variable degrees of urinary phosphatewasting and hypophosphatemia, possibly because of the impaired proximal tubular expression of npt2c. Although lowe did not find evidence for renal fanconi syndrome, with time, others began to describe lowe syndrome as one of the causes of renal fanconi syndrome. Fanconi syndrome see chapter 48 is characterized by a complex transport defect of the proximal tubule that results in decreased reabsorption of glucose, amino acids, bicarbonate, and phosphate. Fanconi bickel syndrome new york clients tests displaying the status new york approved. It is considered the commonest type of inherited marrow failure syndrome 7,11. It is caused by mutations in the gene slc2a2, which encodes for the facilitative glucose transporter. Two unrelated egyptian families having suspected cases of fbs were enrolled after taking a written informed consent. People with this condition may have bone marrow failure, physical abnormalities, organ defects, and an increased risk of certain cancers. We present here the first case of fanconi bickel syndrome, a rare type of glycogen storage disease, from india. Fanconi bickel syndrome fbs is a rare condition characterized by the accumulation of a substance called glycogen in different parts of the body. Glycogen storage disease type xi is a form of glycogen storage disease. Fanconi syndrome is a disorder with the proximal tubules of the kidney.
Fanconi anemia is a rare disorder characterized by progressive bone marrow failure, various congenital abnormalities, and predisposition to malignancies often acute myeloid leukemia. 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. Clinical, biochemical, functional and morphological data are presented in nine infants, children and adults, with fanconi bickel syndrome. Fanconi bickel syndrome genetic and rare diseases information. Fanconi bickel syndrome fbs is characterized by hepatomegaly due to glycogen hepatic storage, renal glycogen accumulation, glycosuria, aminoaciduria and phosphaturia. Fanconi bickel syndrome fbs, or glycogen storage disease type xi, is a rare autosomal recessive disorder characterized by hepatorenal glycogen accumulation, fanconi. It is caused by homozygous or compound heterozygous mutations within glut2, the. Fanconibickel syndrome fbs, also known as glycogen storage disease type xi gsd xi, is a rare autosomal recessive disorder of carbohydrate metabolism. Diagnosis of fbs is often delayed since the clinical features and laboratory. Glomerular filtration rate is normal or slightly decreased.
It causes important nutrients to be excreted by the body rather than reabsorbed into the bloodstream, so those with fanconi. Fanconi syndrome is unrelated toand should not be confused. People with fanconi bickel syndrome do not store the appropriate amount of glycogen. Fanconi bickel syndrome fbs is an autosomal recessive disorder caused by defects in facilitative glucose transporter 2 glut2 or slc2a2 gene mapped on chromosome 3q26. The typical example is fanconi bickel syndrome, characterized by impaired galactose use and the deposition of glycogen in liver and proximal tubule cells. A 17monthold female child presented with severe growth retardation and abdominal distention. A controlled fanconi dog can have a normal life span compared to an unaffected dog.
This is an autosomic recessive disorder for which 34. Fanconibickel syndrome is a rare autosomalrecessive disorder caused by defects in the facilitative glucose transporter 2. 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. Because 70% of the filtered phosphate load is typically reabsorbed in the proximal tubule. Fanconi bickel glut2 hypoglycemia, liver disease, rickets, failure to thrive lysinuric protein intolerance slc7a7 failure to thrive, hepatosplenomegaly, respiratory failure, immunological disorders ad fanconi syndrome r76w hnf4a neonatal iperinsulinism. Fanconibickel syndrome as an example of marked allelic. 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. Fanconi bickel syndrome is an extremely rare disorder characterized by the accumulation of a substance called glycogen in different parts of the body. Fanconi bickel syndrome fbs is an example of proximal rta due to a single gene disorder.
It is recommended that people with fanconi bickel syndrome follow a galactoserestricted diet. These include red blood cells, which carry oxygen to the bodys tissues. Fanconi syndrome and proximal renal tubular acidosis. Fanconi bickel syndrome fbs is a rare inherited glycogen storage disease gsd caused by defects in facilitative glucose transporter glut2 gene that.
Pdf fanconibickel syndrome,a glycogen storage disorder, is a rare disease which was referred to us as a case of resistant rickets find. Fanconibickel syndrome fbs, a rare genetic disorder of carbohydrate metabolism, was first described by fanconi and bickel in 1949. Discussion fbs is a welldefined and a very rare inherited metabolic disease characterized with hepatic and renal involvement. A fanconi syndrome ensues only in those forms of the syndrome in which the deposition of glycogen in the renal tubules interferes with the generation of atp. Subsequently, his name was ascribed as an eponym for this disorder, the lowe syndrome. The syndrome can be caused by various underlying congenital or acquired diseases, by toxicity for example, from toxic heavy metals, or by adverse drug reactions.
An indian girl with fanconibickel syndrome without. Fanconi bickel syndrome fbs, also known as glycogen storage disease type xi gsd xi, is a rare autosomal recessive disorder of carbohydrate metabolism. In its isolated form, rfs only affects the pt, but not the other nephron segments. Introduction fanconi bickel syndrome fbs is a rare autosomal recessively inherited inborn error of metabolism due to impaired utilization of glucose and. It is caused by mutations in the gene slc2a2, which encodes for the facilitative glucose transporter glut2. Yes are approved or conditionally approved by new york state and do not require an nys npl exemption. The defect in the glut 2 receptors in the hepatocytes, pancreas and renal tubules leads to symptoms secondary to glycogen storage, glucose metabolism and renal tubular dysfunction.
Fanconi bickel syndrome fbs is a rare autosomal recessive disorder of carbohydrate metabolism. 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. Mutation analysis of two japanese patients with fanconi. Fanconi bickel syndrome fbs is a rare condition characterized by the accumulation of. Renal fanconi syndrome rfs refers to the generalized dysfunction of the proximal tubule pt kleta r. 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. Bone marrow failure usually results in decreased production of all blood cells. Fanconi syndrome kidney and urinary tract disorders. Glycogen is created when the body needs to store glucose sugar. The treatment was started with 25 hydroxy vitamin d 0.
Fanconibickel syndrome case report introduction a fouryearold girl, third child of third degree consan guineous parents, born at term with a birth weight of. It was first described in 1949 and classified as a glycogen storage disease xi. Galactose is a substance that is broken down into glucose. Fanconibickel syndrome fbs is a rare inherited glycogen storage disease gsd caused by defects in facilitative glucose transporter glut2 gene that. Fanconi bickel syndrome 165 loss, hypoglycemia, hypophosphatemia, hypocalcemia, hypoglycemia with radiological evidence of rickets, the diagnosis of fbs was made in this case as regard to the clinical picture. A fouryearold girl presented with severe growth retardation, genu varum and hepatomegaly. The fanconi bickel syndrome fbs, originally described in 1949, is a rare, welldefined clinical entity that is inherited in an autosomal recessive mode. It is caused by homozygous or compound heterozygous mutations within glut2, the gene encoding the most. Because no underlying enzymatic defect in carbohydrate metabolism had been identified and because metabolism of both glucose. It is caused by mutations in glut2 slc2a2, the gene encoding the glucose transporter protein2, a member of the facilitative glucose transporter family. Fanconi syndrome is a disorder affecting certain kidney filtration tubes the proximal renal tubes that causes vital nutrients and minerals to be leached out of the body through urine, instead of being reabsorbed into the bloodstream.
The fanconibickel syndrome fbs, originally described in 1949, is a rare, welldefined clinical entity that is inherited in an autosomal recessive mode. Pdf fanconibickel syndrome dr mohandas nair karippoth. Fanconibickel syndrome fbs is an autosomal recessive disorder manifesting hepatorenal glycogen accumulation, fanconi nephropathy, and impaired utilization of glucose and galactose. Peroxisomal ehhadh and renal fanconi s syndrome n engl j med 370. Diligence and maintenance is key along with frequent veterinary evaluation and constant supply of fresh water at all times. Mistargeting of peroxisomal ehhadh and inherited renal. Prognosis for fanconi s patients tends to be very good if the patient has transitory fanconi syndrome and if the patient is not uremic. 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. When the body needs sugar again, glycogen is transformed back into glucose for use. Fanconibickel syndrome, can lead to very different clinical and biochemical findings that are not limited to mild proximal renal tubulopathy but. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for fanconi bickel syndrome. The major function of bone marrow is to produce new blood cells.
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