Features of Renal Fanconi Syndrome (Lignac-de Toni-Debre-Fanconi Syndrome)

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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