Differential association of juvenile and adult systemic lupus erythematosus with genetic variants of oestrogen receptors alpha and beta.

Oestrogens acting via nuclear receptors (encoded by ESR1 or ESR2) are important for pathogenesis of systemic lupus erythematosus (SLE). rs2234693 and rs4986938 are two single nucleotide polymorphisms (SNPs) whose C and A variants increase transcription of ESR1 and ESR2, respectively. The T allele of rs2234693 was associated with early onset SLE, whereas the role of rs4986938 in SLE was not reported. Our aim was to examine the role of rs2234693 and rs4986938 in conferring susceptibility to juvenile and adult SLE (jSLE and aSLE). Genotype distribution of both SNPs was analysed in 84 jSLE, 112 aSLE patients and 1001 controls. Allele C of rs2234693 was associated with jSLE (OR = 1.87, p = 0.006, p(corrected) = 0.02), whereas allele A of rs4986938 showed an association with aSLE (OR = 1.46, p = 0.008, p(corrected) = 0.03). In jSLE, rs2234693 C had lower frequency in patients with central nervous system involvement (OR = 0.39, p = 0.005, p(corrected) = 0.04) and showed a trend for increase among males, patients with renal involvement and those without DR2/3 (p < 0.05, p(corrected) > 0.05). Whereas our results are consistent with a role of ESR1 variation in jSLE, more studies are needed since the direction of association was the opposite of that reported previously. The association between rs4986938 (ESR2) and aSLE is a novel finding, consistent with our recent report associating this variant with Graves' disease.

[Lésniowski-Crohn disease and ulcerative colitis in the pediatric clinic of rheumatology]. / Choroba Lesniowskiego-Crohna i wrzodziejace zapalenie jelita grubego w klinice reumatologii dzieciécej.

Some diagnostic problems concerning childhood ulcerative colitis and terminal ileitis are discussed. In a group of 10 patients referred to the pediatric clinic of rheumatology, systemic manifestations and arthritis causing diagnostic difficulties prevailed from the onset of the disease.

[Changes in the gastrointestinal system of children with inflammatory systemic connective tissue diseases]. / Zmiany w ukladzie pokarmowym u dzieci chorych na zapalne ukladowe choroby tkanki lacznej.

Functional and morphological changes of the gastrointestinal system were assessed in patients suffering from juvenile chronic arthritis, juvenile systemic erythematosus and juvenile systemic scleroderma. The results of endoscopic investigation of the gastrointestinal tract showed inflammatory changes and cardiac and pylorus atony. Ultrasonography results suggested hepatic and pancreatic inflammatory changes, steatosis and/or amyloidosis. The above-mentioned changes were confirmed by morphological investigation (biopsy and/or autopsy). The results of the capacity tests performed in JCA (systemic form) patients revealed an impairment of liver detoxication function, and pancreas and bowel functional capacity as well. Additionally, intolerance against lactose, casein and alpha- and beta-lactoglobulin was found in most of the patients. Some symptoms of malnutrition were observed in all of them. Such factors as underlying disease severity, adverse drug effects, environmental factors (infections, nutrition) were taken into consideration as probable causes of the gastrointestinal system damage.

Internal organ involvement in juvenile connective tissue disease.

Using noninvasive investigative techniques, cardiac, pulmonary and gastrointestinal abnormalities were found in patients with all types of connective tissue diseases. Impedance rheography suggested impaired myocardial function. Abnormalities of pulmonary function included a decrease in diffusing lung capacity for CO (DL) values followed by restrictive ventilatory defects and mild alveolar hyperventilation. The results of endoscopic investigation of the gastrointestinal tract showed inflammatory changes. Ultrasonography revealed dyskinesis of the ducts of the gallbladder and some hepatic and pancreatic structural changes.