Pseudohypoaldosteronism, a proximal tubular sodium wasting disease.
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Biomedical subjects
Publications and source records attributed to R Eeckels.
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A 5 1/2-year-old girl, with a life-long history of recurrent staphylococcal infections and eczematous dermatitis had a defect in polymorphonuclear leucocyte chemotaxis and phagocytosis in autologous serum, a high serum IgE level, and a disturbed T cell function. Levamisole improved all the immunological abnormalities and there was a dramatic clinical improvement. Discontinuation of therapy with levamisole resulted in gradual deterioration.
In 11 infants of 3-19 months of age with active gluten-induced enteropathy, an exaggerated and sustained response of plasma TSH to TRH was observed as compared to controls. In these same patients, there was a decrease in total and free T4 and T3 concentrations. All these values were statistically different from controls.
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Plasma levels of thyrotrophin before and after the intravenous administration of 200 microgram of thyrotrophin releasing hormone have been studied in eleven patients with active gluten-induced enteropathy and in a group of twenty-one normal prepubertal children. In nine out of eleven coeliac patients an exaggerated and/or sustained response of plasma thyrotrophin is observed. Basal plasma thyrotrophin level is not significantly different from the value observed in normal children. However, plasma levels recorded 20 and 60 min after injection of the releasing hormone are significantly higher than in control children (at 20 min: P less than 0.01; at 60 min: P less than 0.001). Serum levels of dialysed triiodothyronine and thyroxine and of triiodothyronine are significantly lower in coeliac patients than in normal infants (P less than 0.01). These data support the evidence of an endocrine dysfunction in coeliac disease. It is not clear whether it is due to malnutrition and/or to some direct action of circulating gluten-peptides on the hypothalamus.
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The effects of the infusion in four different dosages (0.001, 0.005, 0.02 and 0.2 mg/kg/min during 60 min) of cyclic 3',5'-adenosine monophosphate and of its dibutyryl derivative on plasma growth hormone and on glucose, immunoreactive insulin and cortisol were studied in 38 normal subjects and in 10 patients with idiopathic hypopituitarism. In normal subjects cyclic 3',5'-adenosine monophosphate provokes an increase in plasma growth hormone levels (only when a dosage of 0.2 mg/kg/min is used) without any changes in plasma glucose, insulin and cortisol. The maximal value of the means is observed 75 min after starting the infusion. Dibutyryl cyclic 3',5'-adenosine monophosphate (0.2 and 0.02 mg/kg/min) provokes a dose-related rise in plasma growth hormone levels which is always preceded by hyperglycaemia and hyperinsulinaemia. The peak of the mean growth hormone levels occurs at 135 min after initiation of the infusion. In all but one hypopituitary patients the nucleotides do not promote growth hormone secretion. It is concluded that exogenous cyclic 3',5'-adenosine monophosphate and its dibutyryl derivative may not be considered as analogous and that both compounds may contribute to study growth hormone release in normal subjects and in patients with growth abnormalities.
Arterial portography is an easy and safe method for the study of children presenting signs of portal hypertension. This method permits the exact localisation of the site of obstruction, the demonstration of the degree and extent of the collateral vessels as well as an appreciation of the intrahepatic arterial bed. A more adequate therapeutic attitude can thus be defined.
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The clinical and metabolic data of 2 cases of methylmalonic acidaemia with propionic acidaemia are reported together with those of 3 other patients with nonketotic hyperglycinaemia. Liver enzymatic studies showed decreased activity in vitro of the glycine cleavage enzyme in one patient with methylmalonic acidaemia as well as in 2 unrelated patients with nonketotic hyperglycinaemia, while the activity of the serine hydroxymethylase enzyme was normal. Hyperammonaemia was substantiated in one patient with methylmalonic acidaemia and also in one child with nonketotic hyperglycinaemia. The activity of the enzymes of the urea cycle, determined in the liver of this nonketotic child, was normal except for a decrease of the carbamyl phosphate synthetase enzyme to 15% of normal.
The administration of c-AMP and DB c-AMP to six children with NDI has failed to yield an antidiuretic effect. From the present study it may be concluded that, at the doses used, neither c-AMP nor its dibutyryl derivative can mimic the action of ADH in NDI as they do in normal subjects. On the contrary, DB c-AMP increased urine volume and Cosm in a very marked way, without changing the creatinine excretion.
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