Cystinuria A Review of Some Recent Investigations *

نویسنده

  • Howard B. Lewis
چکیده

The older literature concerned with cystinuria has been reviewed in detail frequently", 21, 38 44. It is, therefore, the purpose of this review to discuss the more recent literature only, and we have chosen to discuss mainly the literature of the past ten years, the period which hlas elapsed since the most recent revision of Garrod's able presentation of the subject"3. Cystinuria, discovered in 1810 by Wollaston, has usually been considered a rare condition. Thus Kretschmer22, reviewing the cases of cystine calculi and cystinuria in 1916, was able to find only 107 cases of cystine calculi reported in the period of more than a century after Wollaston's original observation. With the renewed interest in this peculiar "error of metabolism", the number of cases reported since 1920 has been large. In our own search of the literature covering the period beginning with 1921, we have been able to find reports of 71 cases of cystinuria, although calculus formation has not been observed in all of these. In addition, the author, through the courtesy of Drs. Reed M. Nesbit and A. R. Klopfenstein of the Department of Surgery, has been able to study a case of cystinuria accompanied by formation of calculi. Furthermore, we have also had under observation, for the past two years, four healthy individuals, all of whom present the classical picture of cystinuria, i.e., frequent occurrence of cystine crystals in the urine, although in no instance has the condition given rise to any of the difficulties usually associated with cystinuria, such as calculus formation, etc. A list of these more recent studies is presented in the bibliography. Comment may be made on a few of these cases. Cystinuria had not been reported from the Orient until Misawa34 in 1927 reported the first observation of the condition in Japan. M5rner87 in 1926 ably summarized all the cases reported in Sweden. After the first report in 1 870, no further occurrence was observed till 1901 and only six cases had been discovered up to 1920. In the six-year period from 1920 to 1925, 16 additional cases were recorded, a total of 22 reported in the Swedish medical literature. Of these only four

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Inherited disorders of amino acid transport in relation to the kidney.

Cystinuria was first described in 1810. Since the initial description, a group of renal cellular transport deficit diseases has been characterized. The study of genetic diseases that create a specific aminoaciduria has expanded our knowledge of cellular structure, cellular transport, and intracellular concentration gradients. A review of the theories and experimental data obtained through inves...

متن کامل

Delineation of cystinuria in Saudi Arabia: A case series

BACKGROUND Cystinuria is an inherited metabolic disease that is caused by defects in two genes, SLC3A1 and SLC7A9, which result in a renal reabsorptive defect of cystine and other dibasic amino acids, including ornithine, arginine, and lysine. Patients usually present with recurrent renal calculi and may develop renal impairment. Medical management includes high fluid intake and chelating agent...

متن کامل

Cystinuria: a rare diagnosis that should not be missed.

Cystinuria is a rare autosomal recessive defect causing recurrent urinary tract stone formation. Morbidity from stone formation and repeated urological interventions can be reduced by early diagnosis and adequate medical treatment. In this review, we illustrate these points by discussing three patients with cystinuria and give a brief review of its management.

متن کامل

Recent developments in configuration design and optimization of mineral separation circuits; A Review

The present research reviews two basic approaches for the separation circuit configuration analysis. The first approach is to optimize the circuit configuration. In this method, after a circuit modeling, a variety of search algorithms and mathematical optimization methods are used. Previous works show that this approach has more application in the flotation process. The second approach called t...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • The Yale Journal of Biology and Medicine

دوره 4  شماره 

صفحات  -

تاریخ انتشار 2008