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I. Time has come to distinguish "Bartter syndrome" from "Bartter disease". The latter is an autosomal recessive renal tubulopathy which manifests itself mostly during infancy and childhood. II. Bartter disease is caused neither by a primary renal potassium loss nor by a primary renal hyperprostaglandinism. All evidence is in favor of a defect in the chloride pump located at the thick ascending limb of Henle's loop. III. The most severe expression of Bartter disease is its neonatal form which is characterized by polyhydramnios, premature delivery and a life threatening sodium chloride loss during the early weeks of life. It takes several weeks before sodium wasting turns into renal potassium wasting. IV. Polyhydramnios not associated with echographically detectable fetal malformation is highly suggestive of Bartter disease. Prenatal diagnosis is based on the combination of fetal polyuria and elevated chloride in the amniotic fluid. V. In this setting the administration of indomethacin is useless and even dangerous from the 32nd week of gestation on. Similarly, indomethacin should not be given to the newborn Bartter patient for the first weeks and months of life. Treatment at that stage consist mainly of the administration of large amounts of fluid and sodium chloride. VI. Indomethacin can be used as soon as children with Bartter disease stop growing normally and preferably after the age of 18 months when kidney maturation is established. The daily dose should not exceed 2.5 mg/kg body weight. VII. Hypercalciuria is part of (the neonatal form of) Bartter disease and it is so severe that nephrocalcinosis seems to be the rule. This hypercalciuria is the direct consequence of the chloride reabsorption defect in Henle's loop. Research is needed to find an adequate solution to this problem.

Three infants with nonobstructive bile duct dilatation (Caroli disease) are described. The bile duct pathology was associated with autosomal recessive polycystic kidney disease in two patients and with severe destruction of the renal parenchyma of unknown origin in the other. Sonograms of the liver showed, besides bile duct dilatations, intraluminal bulbar protrusions, bridge formation across dilated lumina, and portal radicles partially or completely surrounded by dilated bile ducts. Liver biopsy was performed in two patients, and in one patient, the biopsy sample confirmed the findings noted on sonograms. These findings support the hypothesis that the normal embryogenesis of intrahepatic bile ducts is arrested in the pathogenesis of this disease.

Plasma was taken from infants and children with acute hemolytic uremic syndrome (HUS) or following remission from this disease. The capacity of these plasma to stimulate release of prostacyclin-like activity from "exhausted" rat aorta rings was studied. Plasma from 10 out 12 children in the acute phase of HUS, but from only 3 out of 15 children following remission failed to stimulate prostacyclin release (p less than 0.005). These findings suggest that, for the majority of children, the plasma abnormality in the acute phase of the disease is acquired rather than congenital.

A 14-year-old boy presented with the clinical and radiological features of rickets. Serum inorganic phosphate levels were constantly low, whereas serum calcium and parathyroid hormone levels were within the normal range. Laboratory investigation did not show any evidence for vitamin-D deficiency, chronic renal insufficiency, Fanconi syndrome, tubular acidosis, hepatic disease or intestinal malabsorption. A family study comprising 34 members over four generations revealed 10 other individuals to be affected and the mode of inheritance to be autosomal dominant. In addition to hypophosphataemia and normocalcaemia, the disease is characterized by elevated serum 1,25 dihydroxyvitamin D levels and hypercalciuria. This hereditary syndrome of renal hypophosphataemia differs from the common familial X-linked hypophosphataemia and the recently described autosomal recessive hypophosphataemic rickets with hypercalciuria by its dominant mode of inheritance; it differs from hypophosphataemic non-rachitic bone disease by the elevated serum 1,25 dihydroxyvitamin D levels and hypercalciuria.