Familial renal glycosuria: a genetic reappraisal of hexose transport by kidney and intestine.
Renal glucose titration studies were carried out in 10 members of two pedigrees with familial renal glycosuria to test the accepted hypothesis of autosomal dominant inheritance and to investigate the genetic significance of "type A" and "type B" renal glycosuria. In one family, a brother and sister each had a moderately reduced threshold and tubular maximum for glucose (type A), but both of their parents reabsorbed glucose normally. In the second family, two brothers had severe type A renal glycosuria, their mother and one brother had a mild type A defect, and another brother demonstrated a reduced threshold, an exaggerated splay, and a normal tubular maximum, indicative of type B glycosuria.Hexose transport by intestinal mucosa was also investigated in controls and in the three brothers with the most severe renal glycosuria. D-glucose-(14)C and 3-O-methylglucose-(14)C were accumulated by jejunal mucosa from controls by processes which were saturable and concentrative. No differences in hexose transport were observed in the patients with renal glycosuria. We conclude that familial renal glycosuria can be inherited as an autosomal recessive trait; that mild and severe type A renal glycosuria and type B renal glycosuria can occur in the same pedigree; and that defective reabsorption of glucose by the kidney need not be accompanied by abnormalities in intestinal glucose transport. These findings indicate that glucose transport in the gut and kidney are not mediated by identical mechanisms, and that several different mutations are responsible for the phenotypic variability in familial renal glycosuria.
D000328:Adult; D002247:Carbon Isotopes; D005260:Female; D005808:Genes, Recessive; D005947:Glucose / Q000378:metabolism; D006030:Glycosuria, Renal / Q000235:genetics*; D006601:Hexoses / Q000378:metabolism*; D006801:Humans; D007413:Intestinal Mucosa / Q000378:metabolism*; D007583:Jejunum / Q000378:metabolism; D007668:Kidney / Q000378:metabolism*; D007700:Kinetics; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype
D002247:Carbon Isotopes; D006601:Hexoses; D005947:Glucose
J Clin Invest. 1966 Mar;45(3):365-71
5904553
Biochim Biophys Acta. 1960 Dec 18;45:477-82
13696270
J Theor Biol. 1966 May;11(1):10-21
5961531
J Clin Invest. 1955 Oct;34(10):1520-3
13263432
Helv Med Acta. 1957 Oct;24(4):548-55
13480671
Gastroenterology. 1961 Jan;40:120-6
13700282
Am J Hum Genet. 1964 Jun;16:189-94
14174800
Am J Med. 1958 May;24(5):774-84
13520773
Am J Med. 1958 May;24(5):661-75
13520766
Br Med J. 1962 Jun 2;1(5291):1503-7
13904719
J Biol Chem. 1962 Jan;237:118-22
13859905
Biochim Biophys Acta. 1961 Dec 23;54:479-88
14493965
Tohoku J Exp Med. 1966 Oct;90(2):105-16
5971079
Physiol Rev. 1960 Oct;40:789-825
13696269