Table 1
Inherited causes of the renal Fanconi syndrome
| Disorder | Onset/features | Defective gene/protein | Diagnostic test | Specific treatment |
| Cystinosis | Mid/late infancy, poor growth, may be blond/fair hair, corneal cystine crystals | CTNS/cystinosin | Leucocyte cystine concentration | Cysteamine |
| Tyrosinaemia | Infancy, poor growth, hepatic enlargement and dysfunction | Fumaryl acetoacetate hydrolase | Plasma amino acids, urine organic acids (succinyl acetone) | Nitro-trifluoro-benzoyl cyclohexidine (NTBC) |
| Lowe's syndrome | Birth, X linked, cataracts, hypotonia, developmental delay | Inositol polyphosphate 5-phosphatase | Clinical and molecular genetic diagnosis | |
| Galactosaemia | Birth, jaundice, encephalopathy | Galactose 1-phosphate uridyl transferase | Red cell galactose 1-phosphate uridyl transferase | Galactose free diet |
| Fructosaemia | Rapid onset after fructose given, vomiting, hypoglycaemia, hepatomegaly | Fructose-1-phosphate aldolase B | Hepatic fructose-1-phosphate aldolase B | Fructose and sucrose free diet |
| Fanconi–Bickel syndrome | Infancy, failure to thrive, hepatomegaly, hypoglycaemia rickets, glycosuria, galactosuria | GLUT2/Glut2 (facilitated glucose transporter) | ? Monosaccharide diet | |
| Dent's disease | Child/adulthood, X-linked, hypercalciuria, nephrocalcinosis | CLC-5/CLCN5 (voltage gated chloride channel) | Molecular diagnosis | ? Potassium citrate/thiazide |
| Mitochondrial disorders | Usually in infancy, may be multisystem dysfunction | Mitochondrial DNA | Lactate, pyruvate, muscle enzymology | |
| Wilson's disease | Childhood, hepatic disease, neurological signs, Kayser–Fleischer rings | Wc-1/P-type copper transporting ATPase | Copper, caeruloplasmin | D-penicillamine |
