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Article
Peculiar dysmorphic syndrome with orthochromatic leucodystrophy
In 1968, Hooftet al. reported in three siblings a new syndrome with non-congenital microcephaly, a peculiar appearance with strikingly large ears, a severe mental retardation, a progressive optic atrophy and spas...
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Chapter
A New Cause of Urinary Calculi: 2,8-Dihydroxyadenine Stones in Supposed ‘Uric Acid’ Crystalluria
Most stones found in the human urinary tract are formed from common urinary constituents: calcium oxalate, calcium phosphate and ammonium magnesium phosphate. In situations of dehydration, aciduria or uric aci...
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Chapter
Complete Deficiency of Adenine Phosphoribosyltransferase: Report of a Family
The study of inborn errors of purine metabolism in man has led to a better understanding of the latter. Deficiencies of enzymes involved in the purine reutilization pathways mainly concern the hypoxanthine-gua...
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Chapter
Purine Excretion in Complete Adenine Phosphoribosyltransferase Deficiency: Effect of Diet and Allopurinol Therapy
Partial adenine phosphoribosyltransferase (APRTase) deficiency has been considered hitherto as relatively benign in that the only detectable abnormality of purine metabolism has been hyperuricaemia varyingly a...
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Chapter
Immunological Evaluation of a Family Deficient in Adenine Phosphoribosyl Transferase (APRT)
The recent finding of immunodeficiency associated with inherited defects of purine metabolism has led to an intensive study of the latter in lymphocytes.Information can be gained from two sources: analysis of ...
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Chapter
Spectrum of 2,8-Dihydroxyadenine Urolithiasis in Complete APRT Deficiency
The identification of 2,8-dihydroxyadenine (2,8-DHA), a uric acid analogue characterised by its extreme insolubility, as the principal component of so-called ‘uric acid’ stones in a young male child, was origi...
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Chapter
Inheritance of Adenine Phosphoribosyltransferase (APRT) Deficiency
Recognition of the importance of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT) in the control of purine metabolism lead to systematic investigations of the companion purine salvage enzyme, ...
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Article
THE RENIN-ANGIOTENS IN-ALDOSTERONE SYSTEM IN HEALTHY INFANTS AND CHILDREN
Previous investigations have shown that, in healthy children, active renin values, measured as plasma renin activity (PRAact), and plasma aldosterone (PA) values are increased when compared to adult values. No co...
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Chapter
2, 8-Dihydroxyadeninuria: Or When is a Uric Acid Stone not a Uric Acid Stone?
Purine nucleotides important for normal cellular metabolism are derived endogenously from de novo synthesis and also from recycling of pre-formed purines via the so-called salvage pathway (Figure 1). The latter p...
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Chapter
Influence of Purine Content of Diet and Allopurinol on Uric Acid and Oxalate Excretion Levels
A defect of the purine salvage enzyme adenine phosphoribosyl-transferase (APRT) results in lithiasis in some but not all homozygotes for the defect. The stones are frequently mistaken for uric acid1, but are real...
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Chapter and Conference Paper
‘Uric Add’ Stones in Children: Problems of Diagnosis and Treatment in a New Defect— Adenine Phosphoribosyltransferase Deficiency
Uric acid stones generally represent less than 10% of all renal stones in most adult populations. Stones per se are rare in childhood. In some instances a metabolic basis in purine metabolism may be identified...
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Article
Meningitis due to Haemophilus influenzae with multiple resistance to antibiotics: use of moxalactam
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Chapter and Conference Paper
Immunologically Mediated Tubulointerstitial Nephritis
Various experimental studies have shown that tubulo-interstitial nephritis (TIN) may be mediated by auto-antibodies directed against components of the tubular basement membranes (TBM), but the mechanisms of th...
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Article
Benign ureteral fibrous polyp as a cause of obstruction in children
In an 11-year-old boy with intermittent colicky flank pain for several years unilateral obstruction caused by benign ureteral fibrous polyps was found. The radiologic characteristics are discussed and the need...
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Article
Haemorrhagic shock and encephalopathy
Two infants are described with a fulminant disorder characterised by profound circulatory collaps and shock, generalised convulsions and unremitting coma, bleeding due to severe DIC, fever, diarrhoea, metaboli...
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Article
Abdominal colic due to ureteric diverticulum with stone formation
In a 15-year-old boy right lower abdominal colicky pain was caused by intermittent obstruction of the ureter by stones which had accumulated in a ureteric diverticulum. As was shown by repeated X-rays, each of...
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Article
Increased serum prolactin but normal TSH during prolonged domperidone treatment in children
The influence of the dopamine receptor blocking agent domperidone on prolactin and TSH secretion was studied in 16 infants, aged 10–360 days, who were treated for gastroesophageal reflux. The pretreatment seru...
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Chapter
Allopurinol and Dietary Purine Affect Urinary Uric Acid but not Urinary Oxalate Levels
Previously, we and others showed that the ingestion of a non-specific high-purine diet by healthy subjects increased not only urinary uric acid, but urinary oxalate levels as well. Significant reductions in bo...
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Article
Acute sodium valproate intoxication: Occurrence of renal failure and treatment with haemoperfusion-haemodialysis
In a child who probably received an overdose of sodium valproate, progressive coma, intermittent tonic-clonic seizures and anuria developed. Laboratory investigations revealed coagulopathy, anaemia and mildly ...
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Article
Symmetrical necrosis of the basal ganglia in methylmalonic acidaemia
In a patient with methylmalonic acidaemia (MMAA), persistent neurological symptoms were observed in addition to the acute episodes of metabolic dysequilibrium. CT scan and magnetic resonance imaging revealed b...
