The Renal Fanconi Syndrome (RFS) may be caused by a wide variety of causes that affect the function of the proximal renal tubule.
Synonym: Lignac-de Toni-Debre-Fanconi Syndrome
RFS consists of:
(1) a generalized dysfunction of the proximal renal tubule with wastage of water, electrolytes, and other compounds
(2) vitamin-D resistant metabolic bone disease
Compounds lost in the urine include:
(1) sodium
(2) potassium
(3) calcium
(4) magnesium
(5) glucose
(6) phosphate
(7) urates
(8) bicarbonate
(9) carnitine
(10) glyceraldehydes
(11) lysozyme
(12) hormones
(13) low molecular weight (LMW) serum proteins including immunoglobulin light chain
(14) amino acids
Clinical features:
(1) polyuria with polydipsia
(2) dehydration
(3) acidosis
(4) hypokalemia
(5) bone disease
(5a) rickets with impaired growth in a pediatric patient
(5b) osteomalacia in an adult
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Specialty: Nephrology, Clinical Laboratory