Cystinuria (A Case Report of Two Siblings Diagnosed with Hereditary Cystinuria)

Year 1970, Volume: 23 Issue: 6, 1763 - 1768, 31.12.1970

Güneş Akgün

Abstract

Tekrar eden taş düşürme ve hematüri şikayetleri ile kliniğimizde incelenen iki sistinürili kardeş takdim edilmiştir. Bu vesileyle sistinüriye ait literatür gözden geçirilmiştir.

Keywords

Sistinüri , herediter metabolik hastalık , nefrolitiazis , böbrek taşı , dibasik amino asitler , sistin kristalleri

Project Number

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Sistinüri (iki kardeşte tespit edilen herediter sistinüri vakası nedeni ile)

Abstract

In this paper, two brothers who were diagnosed with cystinuria with the manifestations of repetitive nephrolithiasis and hematuria have been presented. Taking the opportunity of these cases, the subject of cystinuria has been reviewed.

Keywords

Cystinuria , hereditary metabolic disease , nephrolithiasis , kidney stone , dibasic amino acids , cystine crystals

Ethical Statement

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Supporting Institution

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Project Number

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Thanks

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References

• Harrison, T. Principles of Internal Medicine, 5th ed., McGraw-Hill Comp., New York, Toronto, London, 1966.
• Nelson, W. Textbook of Pediatrics, 8th ed., Saunders Comp., Philadelphia, London, 1966.
• Baitter, F. “Cystinuria”, Ann. Intern. Med., 62:796, 1965.
• Huth, E. Kidney Stones, A Medical Approach to Diagnosis, Med. Clin. N. Amer., 47:959, 1963.
• Editorial: “A New Look at Cystinuria”, New Engl. J. Med., 273:613, 1965.
• Rosenberg, L., Crawhall, J., Segal, S. “Intestinal Transport of Cystine and Cystine in Man”, J. Clin. Invest., 46:1, 1967.
• Thier, S., Segal, S. “Cystinuria, Defective Intestinal Transport of Dibasic Amino Acids and Cystine”, J. Clin. Invest., 44:442, 1965.
• McCarthy, C., Barland, J., Lynch, H. “Defective Uptake of Basic Amino Acids and L-Cystine by Intestinal Mucosa of Patients with Cystinuria”, J. Clin. Invest., 43:1518, 1964.