Burke, Edmund C.

Familial metaphysial dysostosis has been described as it occurred among 18 members of a family in seven generations. The roentgenologic changes were very similar to those seen in vitamin D resistant rickets. No biochemical defect could be detected. Studies of renal function with special reference to tubular reabsorption of phosphorus gave normal values. The treatment of choice is osteotomy, after epiphysial closure has occurred, to correct the pronounced bowing of the legs. Administration of vitamin D in high doses has no effect on the course of this disease.

The clinical course of 41 patients who had systemic lupus erythematosus complicated by nephritis with symptoms beginning before they were 15 years old was reviewed. The retrospective analysis showed a definite trend toward prolonged survival among the patients receiving high doses of steroids, compared to those receiving no or low doses. We conclude that it is no longer justified to withhold high-dose steroid therapy from children with lupus nephritis, but it should be emphasized equally that this does not apply to children with discoid lupus erythematosus, rheumatoid arthritis with a positive LE clot test, or drug-induced lupus erythematosus. Our present plan of management is outlined.

A survey of the case records of children seen at the Mayo Clinic from 1935 to 1965 revealed that 77 had nephro-ureterolithiasis and 6 had nephrocalcinosis. Calculous disease occurred twice as frequently in boys as in girls; the incidence did not change with age between the ages of 1 and 15 years. Urologic lesions, urinary infections, or both were present in 49 children and cystinuria was present in 5. In 8 children, renal stones were considered causally related to hypercalciuria, whereas in 14 children no etiologic associations could be found. Chemical analysis of calculi, which was performed in 36 cases, revealed that most stones consisted of calcium oxalate or phosphate; no uric acid stones were found.

The method of collection of urine for bacteriologic investigation is of utmost importance. Catheterization and midstream collection* are both acceptable and widely employed methods of obtaining urine from the female child for colony counts. Nonetheless, neither is practical nor possible in many instances. Often urine must be collected by having the child void into a sterile container after thorough cleansing of the area. Frequently, in such instances, evidence of bacteriuria is found which may be puzzling in the absence of symptoms or other evidence of urologic disease. Contamination in such cases is a likely source and we wish to point out what is considered a significant observation that may have important influence on the method of collection of urine.

Radioisotope renograms with orthoiodohippurate-I131 were obtained for 41 children who had known renal or renovascular disorders. (Two patients had hypertension but no evidence of renal disease.) Values determined for various components of the renogram curves were considered abnormal when they exceeded two standard deviations from the mean values for normal children of similar body surface area or when time B (from injection to the point of maximal radioactivity) exceeded 6.5 minutes or differed from the contralateral kidney by more than 1 minute. The renogram was clearly abnormal in all 17 patients who had unilateral or predominantly unilateral renal disorders. Abnormalities associated with bilateral renal disorders varied with the disease and its severity. The clinical severity of impairment of renal function could be estimated from the renogram. The isotope renogram proved to be a simple, reproducible technique for determination of function of the separate kidneys.

Isotope renograms (ortho-iodohippurate-I were obtained from 30 children who had no evidence of renal disease. Determinations were made by a standardized technique with the subjects in a state of relative dehydration; in 15 children the renogram was repeated under conditions of hydration (14 children) or further dehydration (1 child). Values for the point of initial peak (point A), point of maximal radioactivity (point B), and the differences between these points (B-A) were calculated. These values were plotted arithmetically against surface area to obtain regression lines and estimates of the variability of the observations about the line. The time from appearance of radioactivity to peak radioactivity was calculated and found to fall into a relatively narrow range. Similar attempts to correlate mathematically the height of timed segments of the decreasing slope of the renogram with surface area were successful in children with a body surface area of 1.15 m2 or greater. The state of hydration appeared to influence the excretory slope of the renogram; this effect was most pronounced in children whose total body surface area was less than 1.15 m2.

A case is described in which oxalosis occurred in an 11-year-old boy. The patient had experienced the formation of numerous calculi and multiple operations for removal of the calculi. The clinical, pathologic and histochemical findings in the case are presented. The unusual features of the case are extensive deposits of calcium oxalate crystals in the kidneys, bone marrow, spleen, liver, blood vessels, and adrenal cortex. Calcium oxalate, a relatively inert substance, appears to effect renal damage by virtue of its deposition in the renal tissue. While many aspects of oxalate metabolism remain obscure, it is generally presumed that oxalosis represents an as yet undefined metabolic defect.