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Biomedical subjects

C F Potter

Publications and source records attributed to C F Potter.

7 recordsLinked to original sources
PubMed1979

Complete deficiency of adenine phosphoribosyltransferase: a third case presenting as renal stones in a young child.

We report a third case of 2, 8-dihydroxyadenine stones in a child with a complete lack of the adenine salvage enzyme--adenine phosphoribosyltransferase (APRT). The propositus, a 20-month-old girl of consanguineous Arab parents, presented with multiple urinary tract infections and supposed 'uric acid' stones in the right renal pelvis and left ureter. Both parents and one brother were heterzygotes for the defect, in keeping with an autosomal recessive mode of inheritance. In contrast with the other purine salvage enzyme disorder of childhood with true uric acid stones (the Lesch-Nyhan syndrome), uric acid excretion was normal in all family members. As in our previous case, treatment with allopurinol, without alkali, has eliminated the urinary excretion of 2, 8-dihydroxyadenine: the stones were removed surgically. 2, 8-Dihydroxyadenine should be considered in any child thought to have uric acid stones and tests made to distinguish the two compounds.

Adenine↗
PubMed1979

Hypertension, renal function and gout.

Hypertension was found in 18% of 65 patients with untreated gout, a lower prevalence than that previously reported. The clinical characteristics and renal function of these patients were compared with those of age matched groups of both normotensive gouty subjects and normouricaemic patients. The hypertensive patients had significantly greater body weights than their controls and also had a lower glomerular filtration rate. Other aspects of renal function were not significantly different between the three groups. The association of hypertension with gout and impaired renal function is complicated by many possible contributory factors and a simple cause and effect relationship is unlikely.

Adult↗
PubMed1978

Purine metabolism in adenosine deaminase deficiency.

Deoxyadenosine was identified in the urine of a second child with almost undetectable levels of adenosine deaminase (ADA) in erythrocyte lysates. Deoxyadenosine excretion thus appears to be characteristic of ADA deficiency: the acid lability of deoxyadenosine (responsible for the frequent confusion of this abnormal urinary metabolite with adenine) may be used in screening for this defect by isotachophoresis. The deoxynucleotides dATP, dADP and dAMP found initially in the child's erythrocytes (in comparable amounts to ATP, ADP and AMP) disappeared after a successful marrow graft from an unrelated donor, as did the urinary deoxy metabolites. Erythrocyte ADA activity decreased after the marrow graft but was still greater than 10% of normal congruent to 10 weeks after the last red cell transfusion.

Adenosine Deaminase↗
PubMed1978

Absence of oroticaciduria in adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency.

Orotic acid excretion was normal when tested by three methods in adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency. These results do not support the speculation, based on the oroticaciduria observed by others, that the immunodeficiency in these disorders results from the inhibition of pyrimidine biosynthesis. An alternative hypothesis is discussed.

Adenosine Deaminase↗