APRT deficiency may be totally benign or life threatening. The importance of early recognition/diagnosis is thus stressed. Urolithiasis (2,8-DHA stones: the precipitating factor in all cases) is treatable. With early recognition and treatment allopurinol without alkali and a diet low in purine homozygotes have remained clinically and biochemically normal to date. 'Uric acid' stones in children must always be suspect and subjected to sophisticated analysis. Diagnosis from red cell APRT activity may also have its pitfalls.

Adenine↗

PubMed1980

10 years' experience with regular haemodialysis and renal transplantation.

75 children aged under 15 years have entered the regular haemodialysis/renal transplant programme at Guy's Hospital in the 10 years since its inception; 13 children have subsequently died. A combination of hospital and home haemodialysis and renal transplantation was used. 64 children received 80 renal allografts; 37 1st grafts were from live, related donors and 27 were from cadaver donors. The 5-year acturial patient survival for the whole group and for those who had transplants was 76%. Live donor graft survival was 65% at 3 years, and 55% at 5 years; 1st cadaver graft survival was 42% at 3 years. Results obtained during the last 6 years of the 10-year period showed an improvement with a live related donor graft survival rate of 71%, and a 1st cadaver graft survival rate of 47% at 3 years. Particular experience was gained with home haemodialysis and live, related donor transplantation. Despite growth, and psychosocial and rehabilitation problems, the overall results were encouraging, particularly for the 46 children who had successful transplants. These children grew better, had fewer psychosocial difficulties, and were rehabilitated more successfully into normal life than those on long-term dialysis. We conclude that dialysis and transplantation should be offered to all suitable children with terminal renal failure.

Adolescent↗

PubMed1980

Treatment of mesangiocapillary glomerulonephritis in children with combined immunosuppression and anticoagulation.

10 children with mesangiocapillary (membranoproliferative) glomerulonephritis with features associated with a poor prognosis (either crescentic nephritis or a decline in renal function occurring after the initial presentation) were treated with a combination of immunosuppression and anticoagulation using corticosteroids, azathioprine, and heparin followed by warfarin and dipyridamole. Children were followed up for between 2 and 5 years, and at the end of this period 2 had died and 2 had entered the dialysis/transplant programme, but 6 were well (5 with glomerular filtration rates greater than 65 ml/min per 1 x 73 m2). We suggest that these results are sufficiently promising to encourage further trials of this form of treatment.

Adolescent↗

PubMed1980

Micropuncture study of tubular transport of urate and PAH in the pig kidney.

At physiological plasma urate concentration (Purate) (0.05 mg/dl), net secretion of urate occurred in the convoluted part of the proximal tubule of micropunctured anesthetized pigs. The fraction of filtered urate delivered to the point of micropuncture ((TF/P)urate/(TF/P)polyfructosan) was 4.8 +/- 0.5 (mean +/- SE, n =10). Urate was reabsorbed from lower tubular segments, since the fractional excretion of urate (FEurate) was only 2.1. Saturation of secretion as well as reabsorption occurred at Purate of 1.6 mg/dl. p-Aminohippurate (PAH) secretion also occurred mainly in the pars convoluta of the proximal tubule: (TF/P)PAH/(TF/P)polyfructosan was 4.0 +/- 0.4 (n = 11), whereas the FEPAH was 4.5 +/- 0.5 (n = 5). Thus, the pars recta does not contribute significantly to the net secretion of either urate or PAH. PAH was a competitive inhibitor of urate secretion. At a PPAH of 60 mg/dl there was overall net reabsorption of urate. Accordingly, in the pig PAH and urate seem to be secreted by the same transport mechanism.

Absorption↗

PubMed1980

Platelet-aggregating immune complexes in idiopathic glomerulonephritis and SLE.

Immune complex-like material with a molecular weight of greater than 500,000 Daltons was detected in the majority of sera from patients with idiopathic glomerulonephritis, as well as in systemic lupus. In the Raji cell and Clq binding assays the glomerulonephritis sera gave, in general, negative results. Patients with membranous nephropathy, minimal change disease and Henoch-Schönlein purpura also gave positive results in the platelet test, in agreement with other tests not dependent upon complement fixation by the complexes. The amount of platelet-aggregating material detected in vitro correlated closely with in vivo depletion of intraplatelet amines, judged by serotonin concentrations; which suggests that this material may play a major role in platelet activation within the circulation.

Antigen-Antibody Complex↗

PubMed1980

Platelet and plasma serotonin concentrations in glomerulonephritis, II.

We studied intraplatelet serotonin and free plasma 5-OH indole ("serotonin") concentrations in patients with glomerulonephritis. Two hundred and sixty-two samples from 183 patients with primary glomerulonephritis of various types, 269 samples from 44 patients with SLE and 58 samples from 38 normal subjects were studied. Patients with minimal change lesions, focal and mesangial proliferative glomerulonephritis showed platelet and plasma serotonin concentrations indistinguishable from normal individuals. Patients with membranous nephropathy, mesangiocapillary glomerulonephritis, focal segmental glomerulosclerosis polyarteritis and systemic lupus, in contrast, showed diminished mean concentrations of intraplatelet serotonin and raised plasma serotonin concentrations. Within each group, there was a relationship between the two: the lower the platelet serotonin, the higher the plasma serotonin. The presence of a nephrotic syndrome or mild uremia (Pcreat < 400 mumoles/l) did not affect intraplatelet serotonin, although patients with severe uremia (Pcreat > mumoles/l) showed retention of plasma 5-OH indoles, and reduction in intraplatelet serotonin. These data provide further evidence for in vivo platelet activation in patients suffering from glomerulonephritis.

Adult↗

PubMed1980

Platelet and plasma serotonin in glomerulonephritis. III: The nephritis of systemic lupus erythematosus.

Intraplatelet and plasma serotonin levels were measured in 269 samples from 44 patients with systemic lupus erythematosus (SLE) and clinical nephritis. The intraplatelet serotonin levels were depressed and the plasma serotonin levels were raised in lupus nephritis. There was a strong correlation between both lowered intraplatelet serotonin concentration and raised plasma "serotonin", and the overall clinical activity of the disease. This correlation was also observed in the majority of individual patients studied serially; the platelet serotonin levels correlated with both clinical and immunological tests. Serotonin uptake by platelets was significantly diminished, but there was no correlation between serotonin uptake and platelet serotonin levels. There was, however, a correlation between the amount of platelet-aggregating material in the serum and depression of intraplatelet serotonin. This study provides further evidence of in vivo platelet activation in SLE nephritis, and provides a measure of the activation in relation to the clinical and immunological activity of the disease.

Adolescent↗

PubMed1980

Familial gout and renal failure in young women.

Six members of kindred with only one surviving male in three generations, a history of an unusual combination of precocious gout in a girl of nine and rapidly progressive renal disease in young women, have been investigated. Sensitive indicators of the familial defect were the early development of hyperuricemia, an inability to concentrate the urine, and a patchy non-specific interstitial nephritis at biopsy. All these features were disproportionately severe for the young age and sex of affected subjects, and the relatively moderate reduction of GFR in some. Identification of these characteristics enabled the recognition of an early stage of the disease in one young family member whose renal function had previously been normal. The histopathology of the renal lesion in this normotensive teenage girl was similar to that frequently attributed to ageing or hypertension in the archetypal middle-aged gouty male, indicating that neither age nor vascular lesions are necessarily implicated in the latter. Allopurinol has halted further progression of the renal lesion in this young girl over two years. It is thus possible that early diagnosis may benefit the subsequent clinical course and may be important since the number of such families in our experience suggests that precocious familial gout with renal failure is more prevalent than currently recognized.

Acute Kidney Injury↗

PubMed1979

Does the nephrotic syndrome increase the risk of cardiovascular disease?

Cardiovascular mortality and morbidity were assessed, after a mean follow-up period of 5 years, in an unselected series of 159 adults presenting with the nephrotic syndrome between 1972 and 1975. 60% of the deaths were attributed to terminal renal failure, and the incidence of deaths from ischaemic heart-disease (IHD) was not significantly above normal. The proportion of patients experiencing angina and intermittent claudication and the prevalence of ischaemic electrocardiographic changes did not differ significantly from those of a London control population. At follow-up, hypertension was significantly more common (p less than 0.001) in male nephrotic patients than in controls. Earlier reports of a greatly increased incidence of IHD in unselected patients with the nephrotic syndrome were not confirmed. Routine treatment of hyperlipidaemia in the nephrotic syndrome is not, therefore, recommended.

Adolescent↗

PubMed1979

Serum-alkaline-phosphatase as predictor of avascular necrotic disease of bone.

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Adolescent↗