Table 11.9-6. Etiologies of proximal (type 2) renal tubular acidosis and Fanconi syndrome

Familial

Cystinosisa, Wilson disease, hereditary fructose intolerance, tyrosinemia, galactosemia, Lowe disease, Dent disease

Dysproteinemias

Multiple myeloma (LCDD)a, amyloidosis

Drugs

Acetazolamidea, topiramate, NRTIs (tenofovira, adefovir, didanosine, lamivudine), chemotherapeutics (ifosfamide, platinum-based chemotherapy)

Heavy metals

Leada, mercury, copper (Wilson disease)

Tubulointerstitial diseases

Renal transplant, Balkan/Chinese herb nephropathy (aristolochic acid toxicity), medullary cystic kidney disease

Other

Vitamin D deficiency

Familial causes are more prevalent among the pediatric population but can remain undiagnosed until later in life.

a The more common etiologies.

LCDD, light chain deposition disease; NRTI, nucleoside reverse transcriptase inhibitor.