Fanconi syndrome laboratory findings
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Plasma and urinary lab tests in Fanconi syndrome indicate on the expected alterations in the concentration of electrolytes, metabolites and nutrients in concordance to unregulated urinary excretion. Urinary lab tests are more diagnostic than plasma because of more prominent findings.
Laboratory Findings
Labratory findings are not consistent in every case of Fanconi syndrome and the severity extent of each findings varies case by case mostly depended on the underlying etiology. Many of these findings are common with Proximal renal tubular acidosis[1][2].
- Hypophosphatemia/Phosphaturia
- Glycosuria with normal plasma glucose levels (rarely leads to hypoglycemia)
- Proteinuria/Aminoaciduria
- Uricosuria/Hypouricemia
- Natriuresis/Hyponatremia
- Kaliuria/Hypokalemia
- Low anion gap Metabolic acidosis (from bicarbonate loss)
- Hypovolemia from glucose osmotic diuresis and renal sodium loss
References
- ↑ Haque SK, Ariceta G, Batlle D (2012). "Proximal renal tubular acidosis: a not so rare disorder of multiple etiologies". Nephrol Dial Transplant. 27 (12): 4273–87. doi:10.1093/ndt/gfs493. PMC 3616759. PMID 23235953.
- ↑ Enriko Klootwijk, Stephanie Dufek, Naomi Issler, Detlef Bockenhauer & Robert Kleta (2016)Pathophysiology, current treatments and future targets in hereditary forms of renal Fanconi syndrome,Expert Opinion on Orphan Drugs, 5:1, 45-54, DOI: 10.1080/21678707.2017.1259560