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Growth Hormone Therapy in a Case Fanconi-Biekel Syndrome
Abstract:
Fanconi-Bickel syndrome is a rare and easily diagnosable disease, characterized by glycogen accumulation in the liver and kidneys and causing proximal tubular dysfunction and impair glucose and galactoseutilization. I reported a 5 years old girl as a case of FBS presented with delayed walking, severe growth retardation with markedly short stature, doll-like facies, severehypophosphatemicvitamin D resistant rickets, severe abdominal distension, hepatomegaly, renomegaly, and lab evidence of proximal tubular dysfunction. After the start of phosphate therapy, the patient can walk and improved in short time to normal gait, and her abdominal distension became partially improved. I started growth hormone therapy after addressing all the informationsregarding its cost, side effects, prognosis and possible little effectiveness of the hormone in this condition to the mother. Unexpectedly, I found good growth velocity ~ 8 cm/yr with the use of growth hormone in this case.
Keywords:
Fanconi-Bckel syndrome, Rickets, Hepatomegaly, Growth Hormone, Growth velocity