Get 20M+ Full-Text Papers For Less Than $1.50/day. Start a 14-Day Trial for You or Your Team.

Learn More →

Heterozygotes for cystinuria

Heterozygotes for cystinuria BY J. C. CRAWHALL, ELISABETH P. SAUNDERS AND C. J. THOMPSON Medical Professorial Unit, St Bartholomew’s Hospital, London The underlying genetic defect which gives rise to the clinical condition of homozygous cystinuria (cystine-lysinuria) is still unknown. It has been shown that there is a common but variable defect in the transport of cystine, lysine, arginine (Dent & Rose, 1951) and ornithine (Stein, 1951). Frimpter (1961) has demonstrated that an additional disulphide, cysteine-homocysteine disulphide, is also excreted in this disease. Frimpter et al. (1962) have also reported one patient in whom the cystine clearance was 2× the inulin clearance, suggesting that some tubular secretion of cystine was taking place. Frimpter (1963) has also shown by measurement of plasma arterial-venous differences in the kidney of a cystinuric patient that cystine reabsorption was apparently normal while cysteine reabsorption was deficient. Abnormalities of amino acid transport have also been demonstrated in the gut of cystinurics in vivo (Milne, Asatoor, Edwards & Loughridge, 1961) and in vitro (Thier, Fox, Segal & Rosenberg, 1964; McCarthy et al. 1964). It was thought that investigation of heterozygotes for the disease might throw further light on the nature of the abnormality and the mode of inheritance. Extensive http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Annals of Human Genetics Wiley

Heterozygotes for cystinuria

Download PDF
16 pages

Loading next page...
 
/lp/wiley/heterozygotes-for-cystinuria-ZMj0SzAa7l

References (41)

Publisher
Wiley
Copyright
Copyright © 1966 Wiley Subscription Services, Inc., A Wiley Company
ISSN
0003-4800
eISSN
1469-1809
DOI
10.1111/j.1469-1809.1966.tb00520.x
Publisher site
See Article on Publisher Site

Abstract

BY J. C. CRAWHALL, ELISABETH P. SAUNDERS AND C. J. THOMPSON Medical Professorial Unit, St Bartholomew’s Hospital, London The underlying genetic defect which gives rise to the clinical condition of homozygous cystinuria (cystine-lysinuria) is still unknown. It has been shown that there is a common but variable defect in the transport of cystine, lysine, arginine (Dent & Rose, 1951) and ornithine (Stein, 1951). Frimpter (1961) has demonstrated that an additional disulphide, cysteine-homocysteine disulphide, is also excreted in this disease. Frimpter et al. (1962) have also reported one patient in whom the cystine clearance was 2× the inulin clearance, suggesting that some tubular secretion of cystine was taking place. Frimpter (1963) has also shown by measurement of plasma arterial-venous differences in the kidney of a cystinuric patient that cystine reabsorption was apparently normal while cysteine reabsorption was deficient. Abnormalities of amino acid transport have also been demonstrated in the gut of cystinurics in vivo (Milne, Asatoor, Edwards & Loughridge, 1961) and in vitro (Thier, Fox, Segal & Rosenberg, 1964; McCarthy et al. 1964). It was thought that investigation of heterozygotes for the disease might throw further light on the nature of the abnormality and the mode of inheritance. Extensive

Journal

Annals of Human Genetics – Wiley

Published: Mar 1, 1966

There are no references for this article.