Fanconi's syndrome: an Acadian variant
ASN 30th Annual Meeting, San Antonio
J Am Soc Nephrol (Sep) 8:84A 1997
Synopsis: A hereditary form of Fanconi's syndrome had been identified in French Acadian families in Nova Scotia. Thirteen children between the ages of 3 and 10 years were studied who presented with rickets and short stature (>2 standard deviations). Patients were treated with alkali, phosphate, and vitamin D. 2 children showed catch-up growth, and 6 achieved normal age-corrected growth rates.
Comment: This study adds another form of hereditary Fanconi's syndrome to the list of other genetic causes (cystinosis, Lowe's syndrome, fructose intolerance, glycogen storage diseases, galactosemia, tyrosinemia, Dent's disease). Expect to see subsequent studies using genetic markers to identify the chromosomal region and gene(s) involved. Studying these mutations can provide important physiologic insights. For example, the defective gene in Dent's disease (Fanconi's syndrome with nephrocalcinosis, normal serum bicarbonate level and low molecular weight proteinuria) turned out to be a chloride channel (Genomics 29:598-606, 1995). (Stephen L. Gluck MD, Washington University School of Medicine, St. Louis, MO)
To go back use the BACK button on your browser. Otherwise click on the desired link to this article below:
ASN 30th Annual Meeting, San Antonio
Acidosis/alkalosis : Metabolic acidosis