Fanconi renotubular syndrome
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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
- heavy metals
- gentimicin
- ifosfamide
- outdated tetracycline
- streptozocin[3]
- tenofovir
- cisplatin
- idiopathic (autosomal recessive form)
Pathology
- defects in renal tubular transport of H2O, Na+, K+, H+, phosphate, glucose, uric acid, bicarbonate
- renal failure is rare
- swan-neck deformity & cellular atrophy of the initial portion of the proximal tubule
- destruction of erythropoietin-producing cells with advanced disease
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
- urine chemistries
- serum chemistries
- renal tubular acidosis type 2 (RTA-2)
- serum protein electrophoresis
- urine protein electrophoresis
- complete blood count may show anemia with advanced disease
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
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
- ↑ 3.0 3.1 3.2 Medical Knowledge Self Assessment Program (MKSAP) 15, 17. American College of Physicians, Philadelphia 2009, 2015.
- ↑ 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: https://www.ncbi.nlm.nih.gov/pubmed/12552490