[Hereditary pancreatitis]. / Oröklödö hasnyálmirigy-gyulladás.

Attention is drawn to the possible genetic origin of pancreatitis infrequent in childhood. In the case of the authors the diagnosis was supported in the absence of external pathogenic factors by characteristic amino acid excretion which was demonstrable with 8 of the 11 members examined in the family. Genetic relationship is supposed to exist between hereditary pancreatitis and cystin-lysin excretion.

[Glucosylated proteins and perinatal growth]. / Glucosilált proteinek és perinatalis növekedés.

The concentration of HbA1c and glycosylated serum proteins were measured colorimetrically in 30 and 29 newborn infants of various gestational age, at the postnatal age of 0-24 hrs and 19-23 days, respectively. No relationship was found either between the maturity and the prenatal and early postnatal growth of the studied infants or the concentration of glycosylated haemoglobin and serum proteins.

[Lipid- and lipoprotein-cholesterol levels in the first 8 months of low-weight (less than or equal to 1500 g) premature infants]. / Kis súlyú (less than or equal to 1500 g) koraszülöttek lipid-és lipoprotein koleszterin szintjeinek alakulása az élet elsö nyolc hetében.

Lipid levels were determined in 30 low birthweight (less than or equal to 1500 g) preterm infants (birthweight: 1122 +/- 192 g, gestational age: 29,0 +/- 1,7 weeks, mean +/- SD) on the 1st, 14th, 28th, 42nd and 56th days of life. Triglyceride and cholesterol were measured by a Boehringer kit, while HDL-cholesterol and its subfractions by microprecipitation methods. Both triglyceride and cholesterol levels increased significantly from the 1st to the 14th and from the 14th to the 28th days. VLDL + LDL-cholesterol level increased significantly by the 14th day, while HDL-cholesterol level by the 28th day. From the 1st to the 14th day the increment of cholesterol levels was significantly higher in breast milk-fed newborns (n = 18) than in those receiving formula (n = 12). Consequently, on the 14th, 28th and 42nd days cholesterol levels were significantly higher in breast milk-fed newborns than in those receiving formula. By the age of two months, however, the difference diminished.

[Exclusion of Sandhoff disease (Tay-Sachs 0 variant) by chorion biopsy]. / Sandhoff-betegség (Tay-Sachs 0 varians) kizárása chorionbiopszia segítségével.

Transcervical chorionic villus sampling with ultrasound guidance at the 11-th week of pregnancy was made at a woman with the history of one lethal case of Sandhoff disease. The total hexosaminidase and the hexosaminidase A were determined. At the 16-th week amniocentesis was performed and the characteristic enzymes were determined from the amniotic cell culture. The results of the examinations made possible to advise the patient to carry out the pregnancy. The examinations after delivery confirmed the newborn to be a carrier.

[Glycosylated proteins, blood sugar levels and postnatal growth in very low birth weight (less than 1500 g) neonates]. / Glucosilált proteinek, vércukorszint és postnatalis növekedés igen kis súlyú (less than 1500 g) koraszülöttekben.

The concentration of HbA1c, glycosilated serum proteins and blood glucose were followed up during the first eight postnatal weeks in 10 preterm babies of mean (+/- SD) birthweight and gestational age of 1259 +/- 140 g and 30.2 +/- 2.0 weeks, respectively. Both blood glucose and the glucosilation of proteins remained unchanged over the study period. No relationship was found either between growth rate and blood glucose level, or the latter and HbA1c concentration. Statistically significant correlationship could be observed between carbohydrate and total calorie intake and growth rate, but only during the first four postnatal weeks.

[Alkaptonuria-ochronosis]. / Alkaptonuria-ochronosis.

The authors describe the case of a 40-year old female patient. Since her childhood she realised of her urine the black discoloration of the underwear. For about a year, without subjective complaints, blue-black color of the skin involved the axillae and pinnae. For a year appeared the increased pain of thoracal and lumbal spine column and the limitation of motion of these parts. The examination of urine, histological and electron microscopical findings, the X-ray photograph of the spinal column confirmed the diagnosis of alkaptonuria or rather congenital ochronosis.