[Congenital lactic acidosis].
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Biomedical subjects
Publications and source records attributed to M T Freycon.
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A 11.5 month-old girl with recurrent episodes of hypoglycemia and lactic acidosis was identified as having fructose-1,6-diphosphatase deficiency. The diagnosis may be realised with a simple way by an oral fructose tolerance test and the activity dosage of this enzyme in white blood cells. The fructose and sucrose-free diet and avoidance of prolonged fasting resulted in a decrease of hepatomegaly and normal values of lactate between the episodes.
From 1984 Feb 1st to April 30, 63 blood samples were collected from children more than 10 years old in the pediatric unit of CHR de St-Etienne, and analysed for 25 OH D, calcium, phosphate, magnesium and alkaline phosphatase serum concentrations. Mean 25 OH D is lower (22,6 nmol/1) in 26 migrant children (24 from Maghreb and 2 from Turkey) than in 37 European children (mean = 48,6 nmol/1; p less than 0,001). Serum concentration is under 10 nmol/1 in 3 of the 37 Europeans (8%), versus 13 of the 26 Maghrebians (50%). Mean alkaline phosphatase and phosphate are significantly higher in the 36 boys than in the 27 girls. A significative positive correlation is found between alkaline phosphatase and phosphate (r = 0,535; p less than 0,01). There is no relation between age, month of assessment, sex, height, weight, place of late holidays and any of the measured serum values.
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HLA profile was determined in 121 caucasoid children with rheumatoid purpura: out of those 55 developed nephropathy, of variable severity. HLA A and B were studied in all children, DR in 87. HLA BW 35 was more frequently found in total group of rheumatoid purpura (28,9%) and especially in nephropathies: 38,2% vs 20,4% in controls. However the increase is not significative even in nephropathy. On the other hand BW 35-DR 4 association is significatively higher in rheumatoid purpura with or without nephropathy than in controls. Analysis of 3 families with 2 affected sibs and 7 families with 1 affected child does not show any linkage with HLA. Determination of HLA profile does not allow to predict that the disease will be complicated by a nephropathy.
Typical rickets were observed in a 13 year old Turkish girl and in a 14 year old Moroccan girl. Hypocalcaemia was present in one case. Symptoms have easily regressed with vitamin D2. Seric 25 OH D3 was very low; seric 1-25 OH D3 was normal before treatment and increased very much with vitamin D. In the second case vitamin D deficiency was familial. Study of 15 immigrant children living in or near Saint-Etienne has shown low seric concentrations of 25 OH D3 in 9 (8 undetectable).
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