Hypophosphatemic Rickets: Presenting Features of Fanconi—Bickel Syndrome
نویسندگان
چکیده
Fanconi-Bickel Syndrome (FBS) is a rare variety of glycogen storage disease (GSD). Characterized by massive hepatomegaly due to glycogen accumulation, severe hypophosphatemic rickets, and marked growth retardation due to proximal renal tubular dysfunction. We report a young boy presented as hypophosphatemic rickets with hepatomegaly and subsequently diagnosed as FBS.
منابع مشابه
A novel mutation of the GLUT2 gene in a Turkish patient with Fanconi-Bickel syndrome.
Fanconi-Bickel syndrome is a rare inherited disorder of carbohydrate metabolism. The disease is characterized by the association of a massive hepatomegaly due to glycogen accumulation, severe hypophosphatemic rickets and marked growth retardation due to proximal renal tubular dysfunction. Fanconi-Bickel syndrome is a single gene disease and is caused by defects in the facilitative glucose trans...
متن کاملTwo cases of Fanconi-Bickel syndrome: first report from China with novel mutations of SLC2A2 gene.
Fanconi-Bickel syndrome (FBS) is a rare inherited disease caused by mutations in the glucose transporter 2 gene, SLC2A2. We reported the first two Chinese cases of FBS. Both cases presented typical clinical features of hepatomegaly, hypophosphatemic rickets, severely stunted growth, fasting hypoglycemia along with postprandial hyperglycemia, and proximal renal tubular dysfunction with dispropor...
متن کاملAn Indian girl with Fanconi-Bickel syndrome without SLC2A2 gene mutation.
Fanconi-Bickel syndrome is a rare autosomal-recessive disorder caused by defects in the facilitative glucose transporter 2 (GLUT2) gene. It is characterized by hepatorenal glycogen accumulation, tubular nephropathy and impaired utilization of glucose and galactose. In this communication, we present the case of a 5-year-old girl who presented with deforming rickets and massive hepatomegaly. Live...
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Fanconi- Bickel Syndrome (FBS) is a rare type of glycogen storage disease (GSD) Characterized by hepatomegaly, proximal renal tubular acidosis (RTA) and marked growth retardation. We report a case of FBS presenting with diabetic ketoacidosis and transient neonatal diabetes. A female infant, product of consanguineous marriage presented with diabetic ketoacidosis at age 33 days, and was treated a...
متن کاملFanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations.
CONTEXT Many inherited disorders of calcium and phosphate homeostasis are unexplained at the molecular level. OBJECTIVE The objective of the study was to identify the molecular basis of phosphate and calcium abnormalities in two unrelated, consanguineous families. PATIENTS The affected members in family 1 presented with rickets due to profound urinary phosphate-wasting and hypophosphatemic ...
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ورودعنوان ژورنال:
دوره 2011 شماره
صفحات -
تاریخ انتشار 2011