Fanconi syndrome consists of multiple defects in renal proximal tubular reabsorption, causing glucosuria, phosphaturia, generalized aminoaciduria, and bicarbonate wasting. We present here the first case of fanconi bickel syndrome, a rare type of glycogen storage disease, from india. A one year eight month old male child and his nine month old female sibling were presented with growth retardation, abdominal distension, dolllike faces, hepatomegaly, phosphaturia, proximal renal tubular dysfunction. Longterm followup studies show severe growth retardation, partly compensated for by late onset of puberty. Fanconi bickel syndrome fbs is a rare condition characterized by the accumulation of a substance called glycogen in different parts of the. Slc2a2, sugt1, homozygous haplotype deficiency, fanconi bickel syndrome, embryonic lethality background a large proportion of the genes of current cattle breeds can be traced back to a small number of founder animals i. Fanconibickel syndrome and autosomal recessive proximal. It is caused by mutations in the gene slc2a2, which encodes for the facilitative glucose transporter glut2. It is caused by homozygous or compound heterozygous mutations within glut2, the gene encoding the most important facilitative glucose transporter in hepatocytes. Bone marrow failure usually results in decreased production of all blood cells. The encoded protein mediates facilitated bidirectional glucose transport. Glycogen is created when the body needs to store glucose sugar. Also known as glycogen storage disease type xi, the disease was first described by scientists g.
The presenting clinical findings were hyperglycemia and polyuria detected during an. Fanconibickel syndrome fbs, omim 227810 is a rare autosomal recessive disease caused by a deficiency of glucose transporter 2 glut2, a member of the facilitative glucose transporter family santer et al. Endocrine disorders in fanconi anemia constantine a. Fanconi syndrome proximal tubule cystinosis dent disease lowe syndrome. Fanconibickelsyndrom sat schweizer archiv fur tierheilkunde.
It is caused by mutations in glut2 slc2a2, the gene encoding the glucose transporter protein2, a member of the facilitative glucose transporter family. Fanconibickel syndrome in two palestinian children. Fanconi syndrome and proximal renal tubular acidosis. 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. Definition fanconi s syndrome is a set of kidney malfunctions brought about by a variety of seemingly unrelated disorders. Renal fanconi disease is a unique disorder distinct and unrelated to fanconi anemia. It is recommended that people with fanconi bickel syndrome follow a galactoserestricted diet. To ensure longterm funding for the omim project, we have diversified our revenue stream. 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. See also introduction to disorders of kidney tubules.
In its isolated form, renal fanconi syndrome only affects the proximal tubule and not the other nephron segments. These include red blood cells, which carry oxygen to the bodys tissues. Symptoms in adults are osteomalacia and muscle weakness. Fanconi syndrome endocrinologygastroenterology rachel v. Fanconi bickel syndrome fbs, omim 227810 is a rare type of glycogen storage disease gsd.
Fanconi bickel syndrome fbs is a rare condition characterized by the accumulation of. Homozygous haplotype deficiency reveals deleterious. Fanconibickel syndrome as an example of marked allelic. Kidney malfunction leads to excessive urine production and excessive thirst, resulting in deficits of water, calcium, potassium, magnesium, and other substances in the body.
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, and impaired utilization of glucose and galactose manz et al. This article is specifically about the nadpdependent llactate dehydrogenase. Because 70% of the filtered phosphate load is typically reabsorbed in the proximal tubule. Fanconi syndrome genitourinary disorders merck manuals.
Fanconibickel syndrome fbs, also known as glycogen storage disease. Feb 27, 2017 fanconi bickel syndrome is characterized by the accumulation of glycogen in the liver and kidneys. Lactate dehydrogenase ldh or ld is an enzyme found in nearly all living cells. A rare initial presentation of acute lymphoblastic leukemia. Sep 11, 2018 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. Fanconi bickel sendromu ya da glikojen depo hastal. When the body needs sugar again, glycogen is transformed back into glucose for use. 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. Fbs to ensure longterm funding for the omim project, we have diversified our revenue stream. 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. Fanconibickel syndrome fbs is a rare autosomal recessive disorder of carbohydrate metabolism. American journal of medical genetics, part a, 1552, 415417.
Fanconi syndrome is unrelated toand should not be confused. Diligence and maintenance is key along with frequent veterinary evaluation and constant supply of fresh water at all times. Fanconi anemia is a condition that affects many parts of the body. 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, mody1, macrosomia membrane transporters transcription factors. People with this condition may have bone marrow failure, physical abnormalities, organ defects, and an increased risk of certain cancers. Mutations in this gene are associated with susceptibility to diseases, including fanconi bickel syndrome and noninsulindependent diabetes mellitus niddm. Pdf we present here the first case of fanconibickel syndrome, a rare type of glycogen storage disease, from india. A controlled fanconi dog can have a normal life span compared to an unaffected dog. 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.
The major function of bone marrow is to produce new blood cells. Fanconi anemia is a rare but serious blood disorder that prevents your bone marrow from making enough new blood cells for your body to work normally. People with fanconi bickel syndrome do not store the appropriate amount of glycogen. The major acquired causes of xanthine uric acid reabsorption in the proximal tubule can be decreased in the fanconi syndrome. Pdf fanconibickel syndrome,a glycogen storage disorder, is a rare disease which was referred to us as a case of resistant rickets find. Jan 10, 2019 team gb, organised by boa, sent a total of athletes. It can also cause your bone marrow, the spongelike tissue inside your bones, to make abnormal blood cells. Fanconi syndrome kidney and urinary tract disorders merck. Pdf fanconibickel syndrome mutation in slc2a2 gene. Fanconis syndrome definition of fanconis syndrome by. Fanconi bickel syndrome two cases report request pdf. Fanconibickel syndrome fbs is a rare autosomal recessive disorder of carbohydrate metabolism recently demonstrated to be caused by mutations in glut2, t.
For treatment of the symptoms of kidney disease, a doctor may focus on replacing the water and electrolytes that are lost from the kidneys. Affected patients have rickets, aminoaciduria, phosphaturia, growth failure, hepatomegaly, and fasting hypoglycemia. Stratakis, md, dmedsci scientific director, nichd, nih. Fanconi syndrome is a disorder of the kidney tubes in which certain substances normally absorbed into the bloodstream by the kidneys are released into the urine instead. Fanconi syndrome definition of fanconi syndrome by medical. Sometimes the cause of fanconi syndrome is unknown. Elevated glucose levels have been detected in some patients under 1 year of age and fbs should thus be. 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. A dehydrogenase is an enzyme that transfers a hydride from one molecule to another ldh exists in four distinct enzyme classes. Jun 06, 2012 fanconibickel syndrome fbs is an example of proximal rta due to a single gene disorder. Fanconi bickel syndrome is a form of glycogen storage disease. Jun 20, 2011 fanconi syndrome is a rare disease with sporadic incidence and reporting of newly diagnosed cases.
Fanconibickel syndrome a congenital defect of facilitative. Fanconi bickel syndrome fbs is a rare inherited glycogen storage disease gsd caused by defects in facilitative glucose transporter glut2 gene that. 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. Feb 24, 2015 renal fanconi syndrome refers to the generalised dysfunction of the proximal tubule.
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 a rare metabolic disorder of hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose 3,4, first described in 1949 by guido fanconi and horst bickel. 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. Successful treatment with glucocorticoid for secondary fanconi syndrome caused by sarcoidosis. It is considered the commonest type of inherited marrow failure syndrome 7,11. Report of life history and successful pregnancy in an affected patient.
The defect in the glut 2 receptors in the hepatocytes, pancreas and renal tubules leads to symptoms. Fanconi bickel syndrome fbs is a rare variety of glycogen storage disease gsd. Fanconi bickel syndrome fbs is a rare autosomal recessive disorder of carbohydrate metabolism. 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. Acquired deficiency of xanthine oxidase is considerably more common than inherited disorders of decreased production. Fanconi anemia national heart, lung, and blood institute. Fanconi anemia fa is an inherited bone marrow failure syndrome characterized by pancytopenia, predisposition to malignancy, and physical abnormalities including short stature, microcephaly, developmental delay, cafeaulait skin lesions, and malformations belonging to the vacterlh association. 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. Sahu kk, law ad, jain n, khadwal a, suri v, malhotra p, et al. Clinical, biochemical, functional and morphological data are presented in nine infants, children and adults, with fanconibickel syndrome. Fanconibickel syndrome the original patient and his natural. Fanconi anemia is an inherited disease caused by mutations in certain genes, known as fa.
A fouryearold girl presented with severe growth retardation, genu varum and hepatomegaly. Fanconi syndrome in dogs symptoms, causes, diagnosis. Additionally, vitamin d and phosphate supplements can help prevent bone weakening rickets. 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.
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. The renal syndrome that is associated with the swiss pediatrician guido fanconi was actually described in parts and under various names by several investigators who preceded him. The treatment was started with 25 hydroxy vitamin d 0. We are determined to keep this website freely accessible. Management of fanconi bickel syndrome fbs generally focuses on treating the signs and symptoms of the condition. Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. We present the first mutation proven 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. 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. Clinical, biochemical, functional and morphological data are presented in nine infants, children and adults, with fanconi bickel syndrome. Hepatorenal glycogenosis with renal fanconi syndrome.
Galactose is a substance that is broken down into glucose. The elder sibling also presented with glucosuria, hyperglycemia, hypoinsulinemia. Symptoms in children are failure to thrive, growth retardation, and rickets. Characterized by massive hepatomegaly due to glycogen accumulation, severe hypophosphatemic rickets, and marked growth retardation due to proximal renal tubular dysfunction. Fanconi bickel syndrome fbs, also known as glycogen storage disease type xi gsd xi, is a rare autosomal recessive disorder of carbohydrate metabolism. Late diagnosis of fanconibickel syndrome sage journals.
The fanconibickel syndrome is a defined clinical entity which is distinguished from other inherited metabolic diseases by complex defects of renal tubular. Pdf fanconibickel syndrome dr mohandas nair karippoth. Feb 10, 2017 etiology fanconi anemia is an autosomal recessive disease in more than 99% of patients fancb is xlinked recessive each patient with fanconi anemia is homozygous or doubly heterozygous for mutations in 1 of the 15 genes known to be responsible for fanconi anemia. Glycogen storage disease type xi is a form of glycogen storage disease. The typical clinical picture is characterized by hepatorenal glycogen accumulation resulting in hepato and nephromegaly, impaired utilization of. 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 genetic and rare diseases information. Glomerular filtration rate is normal or slightly decreased. 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. Feb 09, 2018 omura d, hagiya h, hanayama y, hasegawa k, morinaga h, kikuta a, et al.
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. Fanconi bickel syndrome fbs is a rare inherited disorder of carbohydrate metabolism caused by mutations in the gene known as glut2. Fanconi anemia is a rare disorder characterized by progressive bone marrow failure, various congenital abnormalities, and predisposition to malignancies often acute myeloid leukemia. Fanconibickel syndrome fbs, also known as glycogen storage disease type xi gsd xi, is a rare autosomal recessive disorder of. Fanconibickel syndrome mutation in slc2a2 gene pdf. Diagnosis of fbs is often delayed since the clinical features and laboratory. Fanconi bickel syndrome fbs is described as an autosomal recessive glycogen storage disorder type xi.
Renal tubular dysfunction is characterized by a specific pattern of impaired proximal. Because of its low affinity for glucose, it has been suggested as a glucose sensor. The typical clinical picture is characterized by hepatorenal glycogen accumulation resulting in hepato and nephromegaly, impaired utilization of glucose and galactose, proximal tubular nephropathy. C metil senddromu e sukrozizomaltaz eksikligi d salbutamol e ipratropium barakat syndrome trichorhinophalangeal syndrome. Alport syndrome dents disease xlinked nephrogenic diabetes insipidus. Biyoloji sitesi, biyoloji hayat, fungal kultur orneklerine yaklasim. 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.
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