Vol. 116. December Printed in U.S.A.
THE JOURNAL OF UROLOGY
Copyright © 1976 by The Williams & Wilkins Co.
PRIAPISM CAUSED BY GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY FREDERICK J. GOULDING* From the Department of Urology, Indiana University Medical Center, Indianapolis, Indiana
ABSTRACT
A isomerase Of the malities account for a quently encountered 1 • 2 Herein a patient anemia of unknown with scribed. Further hematologic evaluation revealed a phosphate isomerase deficiency. Priapism secondary to this entity has not been reported previously.
and li/Iexicans 7 as v12ll as but also has been seen in Americans. I',4ale and female are affected. 'rhe disease m.ay first 1nanifest. but often presents as chronic sometin1es alone or in combination with Episodes of crises may occur and ated with infections. 8 the similar to other
CASE REPORT
A white male infant was born in 1962 and remained in the nursery for 1 week because of icterus. During the next 12 months he exhibited episodes of irritability, fever, pallor, icterus and dark urine. When the patient was 15 months old non-spherocytic hemolytic anemia was detected. Numerous blood transfusions for hemolytic episodes were given until he was 3 years old when a splenectomy was done for stabilization of the hemoglobin concentration. Priapism occurred when the boy was 10 years old. A corpora cavernospongiosal shunt relieved the priapism but was complicated a urethrocutaneous fistula 12 days later, a cystostomy. The fistula closed 3 to 4 weeks later but a distal bulbous urethral stricture developed. Hematologic evaluation at this time revealed a glucose phosphate isorn.erase deficiency in the patient. Family history indicated that the parents and an aunt were heterozygous carriers and that 3 siblings, ages 11 8 months and 7 years, died with clinical histories consistent with glucose phosphate isomerase deficiency. Three months later the patient underwent a first stage Johanson urethroplasty and 6 months later the second stage was performed. During the last 3 years he has been able to void with a good stream.
REFERENCES
J. Urol., 64: 400, 1950. Hasen, H. B. and Raines. S. L.: Priapism associated with sickle cell disease. Trans. Southeast. Sect. Amer. Urol. Ass., p. 44, 1956. Baughan. M. A., Valentine, W. N., Paglia, D. E., Ways, P. 0., Simons, E. R. and DeMs.rsh, Q. B.: Hereditary hemolytic anemia associated with glucosephosphate isomerase (GPI) deficiency-a. new enzyme defect of human erythrocytes. Blood, 32: 236, 1968. Paglia, D. E. and Valentine, W. N.: Hereditary glucosephosphate isomerase deficiency. A review. Amer. J. Clin. Path., 62: 740, 1974. Blume, K. G. and Beutler, E.: Detection of glucose-phosphate isomerase deficiency by a screening prncedure. Blood, 39: 685, 1972. Miwa., S., Nakashima, K., Oda, S., Matsumoto, N,, Kobayashi, R., Katani, M., Harata, A., Onaya, T. T.: Glucoscphosphatate isomerase (GPI) deficiency hereditary nonspherocytic hemolytic anemia. Report of the second case found in Japanese. Acta Haem.atoL Jap,, 70, 1973. Blun1e K, G., Hryni1,~k W., Povvars. D. Trinidad, F., Vlest,
1. Smith, K. H.: Use of dicumarol in persistent priapism.
DISCUSSION
Glucose phosphate isomerase deficiency was first described in 1968. 3 Since that time about 20 cases have been reported, making it probably the third most commonly occurring erythroenzymopathy. 4 No routine hematologic tests serve to distinguish glucose phosphate isomerase deficiency from other erythroenzymopathies, and the diagnosis is usually made after exclusion of membrane defects, hemoglobinopathies and antiglobulin reactions. Diagnosis ultimately relies upon the identification of this deficiency as described the screening method of Blume and Beutler. 5 Quantitative assays for glucose phosphate isomerase are ~~uu•~" for most laboratories equipped to perform ultraviolet Qr,,o,-,i,rAnhAT,A'°"' Glucose phosphate isomerase uvav,v,n., autosomal recessive trait, usually afflicts families of ancestry 4 Accepted for publication June * Current address: 102 Cbarter lina 29483.
other impairment of function. At the present time appears to offer clinical improvement for those requiring numerous transfu4 sions or with severe of acute Altered membrane deformation, especially under conditions of relative acidosis as shown by Chilcote and Baehner, 9 may account not only for the known splenic sequestration in this disease but also for the which occurred in this patient. Increased of the red blood cell membrane, in increased of the blood in the may end in sludging of the cells within the and lead to increaswL,n;
THE JOURNAL OF UROLOGY
Copyright © 1976 by The Williams & Wilkins Co.
PRIAPISM CAUSED BY GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY FREDERICK J. GOULDING* From the Department of Urology, Indiana University Medical Center, Indianapolis, Indiana
ABSTRACT
A isomerase Of the malities account for a quently encountered 1 • 2 Herein a patient anemia of unknown with scribed. Further hematologic evaluation revealed a phosphate isomerase deficiency. Priapism secondary to this entity has not been reported previously.
and li/Iexicans 7 as v12ll as but also has been seen in Americans. I',4ale and female are affected. 'rhe disease m.ay first 1nanifest. but often presents as chronic sometin1es alone or in combination with Episodes of crises may occur and ated with infections. 8 the similar to other
CASE REPORT
A white male infant was born in 1962 and remained in the nursery for 1 week because of icterus. During the next 12 months he exhibited episodes of irritability, fever, pallor, icterus and dark urine. When the patient was 15 months old non-spherocytic hemolytic anemia was detected. Numerous blood transfusions for hemolytic episodes were given until he was 3 years old when a splenectomy was done for stabilization of the hemoglobin concentration. Priapism occurred when the boy was 10 years old. A corpora cavernospongiosal shunt relieved the priapism but was complicated a urethrocutaneous fistula 12 days later, a cystostomy. The fistula closed 3 to 4 weeks later but a distal bulbous urethral stricture developed. Hematologic evaluation at this time revealed a glucose phosphate isorn.erase deficiency in the patient. Family history indicated that the parents and an aunt were heterozygous carriers and that 3 siblings, ages 11 8 months and 7 years, died with clinical histories consistent with glucose phosphate isomerase deficiency. Three months later the patient underwent a first stage Johanson urethroplasty and 6 months later the second stage was performed. During the last 3 years he has been able to void with a good stream.
REFERENCES
J. Urol., 64: 400, 1950. Hasen, H. B. and Raines. S. L.: Priapism associated with sickle cell disease. Trans. Southeast. Sect. Amer. Urol. Ass., p. 44, 1956. Baughan. M. A., Valentine, W. N., Paglia, D. E., Ways, P. 0., Simons, E. R. and DeMs.rsh, Q. B.: Hereditary hemolytic anemia associated with glucosephosphate isomerase (GPI) deficiency-a. new enzyme defect of human erythrocytes. Blood, 32: 236, 1968. Paglia, D. E. and Valentine, W. N.: Hereditary glucosephosphate isomerase deficiency. A review. Amer. J. Clin. Path., 62: 740, 1974. Blume, K. G. and Beutler, E.: Detection of glucose-phosphate isomerase deficiency by a screening prncedure. Blood, 39: 685, 1972. Miwa., S., Nakashima, K., Oda, S., Matsumoto, N,, Kobayashi, R., Katani, M., Harata, A., Onaya, T. T.: Glucoscphosphatate isomerase (GPI) deficiency hereditary nonspherocytic hemolytic anemia. Report of the second case found in Japanese. Acta Haem.atoL Jap,, 70, 1973. Blun1e K, G., Hryni1,~k W., Povvars. D. Trinidad, F., Vlest,
1. Smith, K. H.: Use of dicumarol in persistent priapism.
DISCUSSION
Glucose phosphate isomerase deficiency was first described in 1968. 3 Since that time about 20 cases have been reported, making it probably the third most commonly occurring erythroenzymopathy. 4 No routine hematologic tests serve to distinguish glucose phosphate isomerase deficiency from other erythroenzymopathies, and the diagnosis is usually made after exclusion of membrane defects, hemoglobinopathies and antiglobulin reactions. Diagnosis ultimately relies upon the identification of this deficiency as described the screening method of Blume and Beutler. 5 Quantitative assays for glucose phosphate isomerase are ~~uu•~" for most laboratories equipped to perform ultraviolet Qr,,o,-,i,rAnhAT,A'°"' Glucose phosphate isomerase uvav,v,n., autosomal recessive trait, usually afflicts families of ancestry 4 Accepted for publication June * Current address: 102 Cbarter lina 29483.
other impairment of function. At the present time appears to offer clinical improvement for those requiring numerous transfu4 sions or with severe of acute Altered membrane deformation, especially under conditions of relative acidosis as shown by Chilcote and Baehner, 9 may account not only for the known splenic sequestration in this disease but also for the which occurred in this patient. Increased of the red blood cell membrane, in increased of the blood in the may end in sludging of the cells within the and lead to increaswL,n;
