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The serum levels of 1,25-(OH)2 vitamin D3 were assayed in samples from 12 adolescent patients with SLE. Subnormal levels were observed in 7 of these 12 patients. Low levels of the metabolically active polar metabolite of vitamin D3 may contribute to the development of osteopenia observed in this disease. The cumulative effects of the osteoporotic and anti vitamin D effects of long term steroid therapy in children with SLE may require the cautious administration of supplemental vitamin D.

Post-transplant polycythemia is not uncommon in adult patients and is usually transient, responding to phlebotomy. Five pediatric patients developed erythrocytosis post-transplantation. Three patients had end-stage renal disease due to cystinosis, one had reflux glomerulopathy and one had focal glomerular sclerosis. The probable causes of the polycythemia were graft arterial stenosis in three patients. In one, polycythemia occurred with nephrosis. Polycythemia with hypertension may indicate the presence of arterial stenosis in children post-transplantation.

Expanded polytetrafluoroethylene (PTFE) is a new material now being used to create subcutaneous arteriovenous anastomoses for vascular access in hemodialysis. The authors have been impressed with the versatility of grafts made from this material and, where failure occurs, the ease with which surgical revision can be carried out. Two cases are described to illustrate the adaptability of this material to reconstruction. The authors' initial impression based on 22 months' experience is that PTFE grafts have appreciably modified the management with respect to vascular access, of many patients on long-term hemodialysis.

Experiments in which analogues of choline and acetate were used in an attempt to elucidate presynaptic cholinergic mechanisms are described. The stimulation-induced accumulation of choline analogues in a sympathetic ganglion was used as an indicator of choline transport activation and the effects of various conditions on this phenomenon were tested. Acetylcholine synthesis and release, in the presence of choline, were then measured under similar conditions in order to explore the relationship between choline uptake and acetylcholine synthesis. Finally, the synthesis, storage and release of analogues of acetylcholine with altered acetyl moieties, propionylcholine and butyrylcholine, were studied using the Torpedo electric organ. Both of these analogues were incorporated into synaptic vesicles, but while butyrylcholine was as releasable as acetylcholine, propionylcholine was less releasable.

Objective: To review the history, basic defect, pathogenesis, clinical manifestations, diagnosis, and treatment of nephropathic cystinosis., Design: Lysosomal membrane transport studies, clinical reports, and a historically controlled 7-year trial of oral cysteamine therapy., Setting: University centers in the United States and Canada., Patients: One hundred forty-eight children, aged 0 to 12, with nephropathic cystinosis before renal transplant, who had renal tubular Fanconi syndrome, failure to grow, corneal cystine crystals, and elevated leukocyte cystine; 34 patients, aged 9 to 29, after transplant, some with visual impairment, corneal erosions, pancreatic dysfunction, or neurologic deterioration., Intervention: Before transplant, replacement of renal losses, and treatment with oral cysteamine (55 mg/kg body weight.d for 1 to 6 years) and topical cysteamine eyedrops (0.1%, 1 drop/h while awake, for 6 months). After transplant, oral cysteamine and symptomatic treatment of late complications., Measurements and Main Results: Untreated patients reached renal failure at age 10. Oral cysteamine lowered leukocyte cystine over 80%, and in patients before transplant, improved growth and preserved renal function (mean creatinine clearance [+/- SE], 0.64 +/- 0.04 mL/s.1.73 m2 [38.5 +/- 2.5 mL/min.1.73 m2] in the cysteamine group compared with 0.50 +/- 0.03 mL/s.1.73 m2 [29.7 +/- 2.0 mL/min.1.73 m2] in controls; 95% CI for the difference, 1.8 to 15.8). Cysteamine eyedrops cleared the corneal crystals of two children less than 2 years old., Conclusions: Cystinosis is a lysosomal storage disease due to impaired transport of cystine out of lysosomes. In young children, growth can be improved and renal deterioration delayed or prevented by oral cysteamine. Nonrenal complications after transplant might be prevented with long-term oral cysteamine.

Seventeen children with acute renal failure due to the hemolytic-uremic syndrome were examined with duplex Doppler ultrasound. Serial measurements of intrarenal arterial pulsatility were obtained by means of the Pourcelot index. These were compared with daily urine volume, both during the phase of renal failure (during which most of the children were undergoing peritoneal dialysis) and during recovery of renal function. During oliguria or anuria there was either no intrarenal arterial flow (ie, absent Doppler shifts), or absent, reversed, or markedly reduced diastolic flow. Within 24-48 hours after diastolic Doppler shifts returned to normal, diuresis occurred. The Doppler examination enabled prediction of recovery and allowed dialysis treatment to be abbreviated or, in some cases, canceled.

Henoch-Schönlein's purpura is a systemic vasculitis involving mainly skin, joints, intestine and kidney. We report on 2 patients who presented with clinical signs and symptoms suggestive of testicular torsion. In 1 case purpuric areas after leg cast removal indicated a diagnosis of Henoch-Schölein's purpura. Surgical exploration of the other case revealed congestion of the hydatid of Morgagni, which was followed by typical systemic manifestations of Henoch-Schönlein's purpura. These and another case indicate that orchitis accompanying Henoch-Schönlein's purpura may mimic testicular torsion.

Based on clinical and experimental data, a cardiomyopathic syndrome has been attributed to chronic hypokalemia. Analysis of the published data indicates the presence of numerous other complicating factors which might have compromised cardiac function. Echocardiographic studies on 5 children with lifelong (Bartter's syndrome, 3 cases; congenital renal alkalosis, 1 case) or prolonged (primary hyperaldosteronism, 1 case) hypokalemia did not reveal any abnormalities of myocardial performance, thus questioning the premise that hypokalemia causes cardiomyopathy.

Clinicopathologic observations in the case of a black infant with Chediak-Higashi syndrome are reported. Light and electron microscopic examination of spleen, liver and lymph nodes revealed abnormal large lysosomes as well as marked erythrophagocytosis without hemosiderosis in infiltrating histiocytes and Kupffer cells. In addition, there were abnormal ocular findings. It is suggested that the erythrophagocytosis without hemosiderosis might also be a specific anatomic expression of this disease due to defective lysosomal digestion of phagocytosed erythrocytes.

We report on a 2-year-old child who presented with urinary tract infection and a large solitary bladder calculus. Dietary history indicated an intake of 2 gm. calcium with supplemental vitamin D daily. Urinary amino acid analysis revealed cystinuria. The high dietary intake of calcium and vitamin D may have precipitated early cystine calcium stone formation.

A method has been described for the measurement of blood flow in non branching grafts using the isotope dilution principle. The technique is simple, reproducible and consistent and can be performed in less than ten minutes.