A case of congenital nephrotic syndrome associated with partial deficiency of lecithin cholesterol acyltransferase (LCAT) and hypothyroidism

The case of a 3 year-old boy with congenital nephrotic syndrome is reported, in whom decreased LCAT activity and hypothyroidism were also present. Renal biopsy confirmed a diffuse proliferative glomerulonephritis with a large number of foam cells in the capillary lumen of the glomerulus and the interstitium, which stained positively with acid phosphatase indicating the presence of macrophage with phagocyted lipid vacuole. The histological picture was similar to that of familial LCAT deficiency, but the reported case is one of secondary LCAT deficiency as a result of urinary loss of the enzyme. Replacement therapy with thyroid hormones resulted in improvement in growth and development.     

Lipid clearing in premature infants during continuous heparin infusion: role of circulating lipases

The nature of the lipases released into the circulation during low level continuous infusion of heparin (1 unit/ml total parenteral nutrition) and after bolus heparin injection (10 units/kg) was investigated in a group of 11 low birth weight infants (gestational age 27-34 wk, and postnatal age of 7-26 days) receiving total parenteral nutrition with Intralipid (0.5 g/kg). Hepatic lipase and extra-hepatic lipoprotein lipase were differentiated with the aid of an antibody specific for human hepatic lipase. The data show that continuous low level heparin infusion leads to a constant baseline postheparin lipolytic activity of 0.77 +/- 0.18 mumol free fatty acids released per milliliter serum per hour. Bolus heparin injection leads to peak lipolytic activity levels of 3.77 +/- 0.46 mumol free fatty acids per milliliter serum per hour, 10 min after injection. About two-thirds of the total postheparin lipolytic activity was of the hepatic type during low level continuous infusion or after bolus injection of heparin.     

早产儿暖箱保温及静脉输液

1　暖箱保温早产低体重儿保温设备主要是暖箱。箱内热空气流动保持环境温度 ,箱内有水槽调节湿度。常用暖箱的箱壁是单层的有机玻璃制成。暖箱保温时仍存在着四种散热方式 ,即辐射、对流、蒸发、传导。学者Ｈｅｙ曾测定暖箱的四种散热方式 ,其中辐射和对流散热比例最高。因此暖箱温度的维持明显受婴儿室环境温度的影响。近年来发达国家有双层箱壁的暖箱问世 ,其目的也是减少单层箱壁受环境温度的影响。现就低体重儿特别是极低体重儿暖箱保温时应注意的几个问题进行讨论。1.1　适中温度的选择　适中温度又称中性温度 ,它是根据小婴儿日龄和体…     

VWF-cleaving protease (ADAMTS13) in premature infants

BACKGROUND: Patients with thrombotic thrombocytopenic purpura (TTP) are deficient in von Willebrand factor (VWF)-cleaving protease, called ADAMTS13, and are prone to develop abnormal intravascular platelet aggregation leading to focal cerebral ischaemia. We speculated that low levels of ADAMTS13 are present in premature infants. This might result in platelet aggregation with subsequent ischaemia, vessel rupture and haemorrhage, and thus contribute to intraventricular haemorrhage and periventricular leucomalacia (IVH and PVL). PATIENTS AND METHODS: Nine preterm infants with gestational ages 23.7 to 30.9 (median 25.7) wk, and 10 healthy term control infants with gestational ages 36.9 to 39 (median 37.9) wk were included. Blood was sampled from the umbilical cord at delivery, and levels of ADAMTS13, VWF antigen and VWF collagen binding activity were analysed. RESULTS: The mean ADAMTS13 level in preterm infants was lower than in the term infants, but the difference between the groups was not statistically significant. However, in the preterm group there was a positive correlation between ADAMTS13 and both gestational age (r = 0.70, p = 0.035) and birthweight (r = 0.83, p = 0.005). Three preterm infants had ADAMTS13 of 18-20%. One of these developed a germinal matrix haemorrhage and PVL, and this infant had the lowest measured ADAMTS13 of all. The levels of VWF antigenand VWF collagen bindingactivity were higher in the preterm infants. CONCLUSION: This pilot study showed that preterm infants have low levels of ADAMTS13. Enzyme substitution may be a therapeutic option if an association with IVH or PVL can be confirmed in larger patient groups.     

The cardiovascular and oncotic effects of albumin infusion in premature infants

We determined the oncotic and cardiovascular effects of a standardised infusion of human albumin (1.2 g/kg over 2 h as a 20% solution) in 12 premature infants on 18 occasions when hypovolaemia was suspected on clinical grounds. Blood volume increased by a median value of 15.5%, and fell to preinfusion values by 3 h post infusion in all but four cases. Albumin concentration and colloid osmotic pressure rose during infusion and remained raised even when blood volume had fallen to preinfusion levels. Blood pressure rose in 3 cases only and heart rate fell by > 5 beats/min in 6 cases. Indices of longand short-term heart rate variability were unchanged, but blood pressure variability fell in the second hour of infusion (P = 0.03), an effect which was independent of changes in lung inflation. No changes in blood gases or oxygenation occurred during infusion and no evidence of pulmonary oedema was found. There were wide variations in oncotic and cardiovascular responses to the standardised infusion both between and within subjects. When human albumin is infused in this manner some protection against respiration-induced variability in blood pressure can result, but the circulatory response may prove difficult to predict in the individual.     

Plasma lecithin: cholesterol acyltransferase and plasma lipolytic activity in preterm infants given total parenteral nutrition with 10% or 20% Intralipid

The effect of 10% or 20% Intralipid on lipid clearing enzymes, plasma lipids and apoproteins was investigated during the first 5 days after birth in 37 premature infants maintained on total parenteral nutrition; 21 infants received 20% and 16 received 10% Intralipid, respectively. Lipid was infused over a 20-h period at rates of 1, 2 and 3 g/kg/day on consecutive days. Plasma lecithin: cholesterol acyltransferase (LCAT) activity was low and increased significantly (p < 0.05) only during infusion of 3 g/kg/day in both groups of infants. Plasma lipolytic activity was generally not affected by the regimen orpreparation(10% or 20%) of Intralipid infused, except for higher (p < 0.05) levels at 3 g/kg/ day of 20% compared with prelipid infusion. Plasma triglyceride concentrations were similar after 10% or 20% Intralipid, whereas plasma total cholesterol was significantly higher during infusion of 2 and 3 g/ kg/day of 10% compared with 20% Intralipid. The efficient clearing of 20% Intralipid might be related to the lower lecithin: triglyceride ratio which is compatible with the low LCAT activity of premature infants. Apoprotein A-J, apoprotein B, cholesterol, LCAT, plasma lipolytic activity, triglycerides     

Effect of heparin dose and infusion rate on lipid clearance and bilirubin binding in premature infants receiving intravenous fat emulsions

The effect of heparin dose and infusion rate on plasma lipids, lipases, and unbound bilirubin was investigated in 22 premature infants with physiologic jaundice. Infants were randomly assigned to receive low or high intravenous doses (24 vs 137.3 U/day) of heparin. Each patient then received 2 g/kg/day of 10% Intralipid on 2 successive days: one day during a 15-hour period and the other day over 24 hours, with the order assigned randomly. The results demonstrate a significantly greater change in serum-free fatty acids in infants receiving the high heparin dose during the 15-hour lipid infusion period. Lipoprotein lipase activity rose more with the high heparin dose and equally at either infusion rate. We conclude that lipid infusions of 2 g/kg/day with low heparin dosage infused over 24 hours resulted in less elevation in serum-free fatty acids. There were no adverse effects on unbound bilirubin at either infusion rate or heparin dosage.