Fanconi or not Fanconi? Lowe Syndrome Revisited

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Fanconi or not Fanconi? Lowe syndrome revisited.

R enal Fanconi syndromes are both clinically challenging and physiologically fascinating. The diagnosis requires a certain index of suspicion to correctly identify the clinical symptomatology and pursue the appropriate laboratory evaluations. With regard to the pathophysiology, the renal proximal tubule is the site of action. Through a complex and coordinated machinery of luminal and basolatera...

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The adult Fanconi syndrome.

DAWSON, D. W., and JOHNSON, J. (1958): Anticonvulsants and Megaloblastic Anaemia, Brit. med. J., i, 397. GIRDWOOD, R. H., and LENMAN, J. A. R. (1956): Anaemia occurring During Primidone Therapy, Brit. med. J., i, 146. GOUGH, K., READ, A., MCCARTHY, C., and WATERS, A. (1963): Megaloblastic Anaemia due to Nutritional Deficiency of Folic Acid, Quart. J. Med. N.S., 32, 243. HAWKINS, C. F., and MEYN...

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INDIAN PEDIATRICS Primary Fanconi Syndrome

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 neph...

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ژورنال

عنوان ژورنال: Clinical Journal of the American Society of Nephrology

سال: 2008

ISSN: 1555-9041,1555-905X

DOI: 10.2215/cjn.02880608