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Fanconi renotubular syndrome

A syndrome characterized by a deficiency in renal tubular excretion, resulting in aminoaciduria, glycosuria & hypophosphatemia. Etiology: 1) multiple myeloma is the most common cause in adults 2) cystinosis 3) tyrosinemia 3) galactosemia 4) fructose intolerance 5) glycogen storage disease type 1 6) Wilson's disease 7) familial nephrosis 8) hereditary amyloidosis 9) primary & secondary hyperparathyroidism 10) tubulointerstitial disease a) renal transplantation rejection b) Balkan nephropathy c) medullary cystic disease 11) Lowe's oculocerebrorenal syndrome (X-linked form) 12) metachromatic leukodystrophy 13) bone fibroma 14) osteopetrosis 15) paroxysmal nocturnal hemoglobinuria [3] 16) pharmaceutical agents a) heavy metals 1] lead 2] cadmium 3] mercury b) gentimicin c) ifosfamide d) outdated tetracycline e) streptozocin [3] f) tenofovir g) cisplatin 17) idiopathic (autosomal recessive form) Pathology: 1) defects in renal tubular transport of H2O, Na+, K+, H+, phosphate, glucose, uric acid, bicarbonate 2) renal failure is rare 3) swan-neck deformity & cellular atrophy of the initial portion of the proximal tubule 4) destruction of erythropoietin-producing cells with advanced disease Genetics: autosomal recessive form Clinical manifestations: 1) children - polydipsia - malnutrition - increased susceptibility to infection - growth retardation (dwarfism) - bony deformities similar to rickets - waddling gait 2) adults - pain in weight-bearing joints - dehydration - pathologic fractures Laboratory: 1) urine chemistries a) 24 hour urine amino acids: aminoaciduria b) cystinuria c) urine glucose: glycosuria d) phosphaturia e) 24 hour urine uric acid: uricosuria 2) serum chemistries a) serum phosphate: hypophosphatemia b) serum uric acid: decreased serum uric acid c) serum K+: hypokalemia 3) renal tubular acidosis type 2 (RTA-2) 4) serum protein electrophoresis 5) urine protein electrophoresis 6) complete blood count may show anemia with advanced disease Radiology: pseudofractures Management: 1) liberal intake of H2O, Na+, K+ 2) phospate supplementation may be necessary 3) metabolic acidosis may be corrected with HCO3- 4) vitamin D helps promote bone healing 5) glycosuria, uricosuria & tubular proteinuria do not require treatment 6) prognosis is good when systemic disease is treated

Interactions

disease interactions

Related

Fanconi anemia Fanconi-Bickel syndrome

General

genetic syndrome (multisystem disorder) tubulointerstitial nephropathy

Database Correlations

OMIM correlations

References

  1. DeGowin & DeGowin's Diagnostic Examination, 6th edition, RL DeGowin (ed), McGraw Hill, NY 1994, pg 885
  2. Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 625
  3. Medical Knowledge Self Assessment Program (MKSAP) 15, 17. American College of Physicians, Philadelphia 2009, 2015.
  4. Izzedine H, Launay-Vacher V, Isnard-Bagnis C, Deray G. Drug-induced Fanconi's syndrome. Am J Kidney Dis. 2003 Feb;41(2):292-309. Review. PMID: 12552490