Fanconi Syndrome
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Contents |
Introduction
- A syndrome characterized by a deficiency in renal tubular excretion, resulting in aminoaciduria, glycosuria & hypophosphatemia.
Etiology
- multiple myeloma is the most common cause in adults
- cystinosis
- tyrosinemia
- galactosemia
- fructose intolerance
- glycogen storage disease type 1
- Wilson's disease
- familial nephrosis
- hereditary amyloidosis
- primary & secondary hyperparathyroidism
- tubulointerstitial disease
- Lowe's oculocerebrorenal syndrome ( X-linked form)
- metachromatic leukodystrophy
- bone fibroma
- osteopetrosis
- paroxysmal nocturnal hemoglobinuria [3]
- pharmaceutical agents
-
- gentimicin
- ifosfamide
- outdated tetracycline
- streptozocin [3]
- idiopathic ( autosomal recessive form)
Pathology
- defects in renal tubular transport of H2O, Na+, K+, H+, phosphate
- renal failure is rare
- swan-neck deformity & cellular atrophy of the initial portion of the proximal tubule
Genetics
- autosomal recessive form
Clinical-manifestations
- children
- polydipsia
- malnutrition
- increased susceptibility to infection
- growth retardation ( dwarfism)
- bony deformities similar to rickets
- waddling gait
- adults
Laboratory
Radiology
- pseudofractures
Management
- liberal intake of H2O, Na+, K+
- phospate supplementation may be necessary
- metabolic acidosis may be corrected with HCO3-
- vitamin D helps promote bone healing
- glycosuria, uricosuria & tubular proteinuria do not require treatment
- prognosis is good when systemic disease is treated
More General Terms
Additional Terms
Internet Database
OMIM: 134600
OMIM: 227650
OMIM: 227660
References
- DeGowin & DeGowin's Diagnostic Examination, 6th edition, RL DeGowin (ed), McGraw Hill, NY 1994, pg 885
- Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 625
- Medical Knowledge Self Assessment Program (MKSAP) 15, American College of Physicians, Philadelphia 2009
