INDIAN PEDIATRICS Primary Fanconi Syndrome

نویسندگان

  • Pankaj Deshpande
  • Uma Ali
چکیده

The Fanconi Syndrome is a generalized proximal tubule defect leading to urinary wasting of many solutes such as glucose, amino-acids, phosphates and bicarbonates that results in polyuria, growth failure and resistant rickets(l,2). It is an. uncommon tubulopathy and is usually secondary to a systemic disease, metabolic disorder or drug toxicity. Of the 40 inherited tubulopathies seen at our nephrology clinic, there have been only 6 cases of Fanconi Syndrome, 5 of which were secondary. Primary Fanconi Syndrome is quite rare and has not been reported earlier in Indian literature.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Approach to renal tubular disorders.

The renal tubule plays an important role in fluid and electrolyte homeostasis. Renal tubular disorders may affect multiple ( e.g., Fanconi syndrome) or specific (e.g., nephrogenic diabetes insipidus, renal glucosuria) tubular functions. Most conditions are primary and monogenic but occasionally are secondary to other disorders (focal segmental glomerulosclerosis, cystinosis, Lowe syndrome). Tub...

متن کامل

Fanconi-Bickel Syndrome - Mutation in SLC2A2 Gene

Fanconi-Bickel Syndrome (FBS) is a rare autosomal recessive disorder of carbohydrate metabolism. 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. Derangement in glucose metabolism is classical with fasting hypoglycemia and post-prandial hyperglycemia. The authors r...

متن کامل

Acute lymphoblastic leukemia with treatment--naive Fanconi anemia.

Fanconi anemia is known to have a predisposition to cancer, mostly associated with acute myeloid leukemia. We report an eight year old girl with treatment and naive FA who developed acute lymphoblastic leukemia. She was initiated on chemotherapy but she failed to respond to treatment and died during induction phase of chemotherapy. While this association may be coincidental but possibility of t...

متن کامل

Bilineal Acute Leukemia Associated With Fanconi Syndrome: The First Case Report

Fanconi syndrome is a metabolic disorder involving dysfunction of the renal proximal tubules, resulting in excessive urinary excretion of several metabolites. Various factors may lead to Fanconi syndrome, as it may be a genetic disease with primary or secondary etiologies, or may be acquired. In this study, we report a unique case of Fanconi syndrome with development of a relatively rare acute ...

متن کامل

Hyperimmunoglobulin E syndrome.

Hyperimmunoglobulin E (HIE) syndrome is a primary immunodeficiency disorder characterized by recurrent bacterial infections in presence of very high serum Ig E levels. We are reporting a nine-year-old child with HIE syndrome and reviewing literature on this disease.

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:

دوره   شماره 

صفحات  -

تاریخ انتشار 2007