Hyperchloræmic Acidosis with Nephrocalcinosis

THE syndrome of hyperchlora-mic acidosis with nephrocalcinosis was first described by Dr. Reginald Lightwood at a meeting of the British Padiatric Association at Newcastle, Co. Down, in May, 1935. He described the finding at post-mortem in six infants of heavy deposits of insoluble calcium salts in the renal tubules. The six cases occurred in a consecutive series of 850 autopsies. This may indicate a higher incidence than is correct. These children have a prolonged illness and there is a tendency for cases where the diagnosis remains obscure to gravitate to Great Ormond Street. Renal acidosis of this type is relatively rare. Working backwards from these autopsy findings of renal calcification, Dr. Lightwood made a study of the clinical records and found certain features common to all cases. Anorexia, constipation and failure to thrive were present in all and obstinate vomiting in three. On examination, the principal findings were wasting and muscular hypotonia. Sometimes the urine contained a little albumen, a few leucocytes and bacteria but there was no general improvement after treatment of this mild and inconstant infection. The immediate cause of death was infection. There was no evidence of other disease, the feeding had been correct and vitamin D dosage not excessive. In September, 1936, Dr. Lightwood took the subject further by describing a similar case diagnosed during life with a reduced alkali reserve persisting over six months and a persistently alkline urine containing a trace of albumen, occasional white cells and streptococci on culture. Since then numerous case reports have been published often of single cases with a few small series from the larger medical centres. Albright and his fellow-wvorkers in the United States have studied extensively the bone changes in adolescent and middle-aged persons showing the same biochemical changes. From these reports the following picture emerges. In children the onset may be in the first few weeks after birth or more frequently at any time during the first year. Less often it has been reported during childhood, at puberty or at any age in adult life. In adults the prominent feature is usually the bony changes secondary to the effects on calcium metabolism. The development of these bony changes can often be traced back many years-even up to twenty-suggesting that the onset is most often if not always in early life. The symptoms in infants are anorexia, vomiting which is variable in persistence and severity, but often …