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Hirschsprung disease (HSCR) is a congenital, heterogeneous disorder, characterized by the absence of intestinal ganglion cells. Recent advances show that the RET gene is a major locus involved in the pathogenesis of HSCR. The aim of this study was to analyse if the HSCR phenotype in the Polish population is associated with the presence of polymorphisms in exons 2,3,7,11,13,14 and 15 of the RET gene. Molecular results were compared with clinical and long-term follow-up data in 70 Polish patients with HSCR (84.3% with a short segment and 15.7% with a long segment of aganglionic gut). Single-nucleotide polymorphisms were analysed by using the minisequencing SNaPshot multiplex method. The 135G>A polymorphism in RET exon 2 was overrepresented in HSCR patients, compared with a healthy control group. Moreover, the 135G>A variant was shown to be associated with the severe HSCR phenotype. Two other polymorphisms, 2071G>A in exon 11 and 2712C>G in exon 15, were underrepresented in the patients. The results confirm that these RET polymorphisms play a role in the aetiology of HSCR.
The adrenal glands from 15 guinea pigs aged 90 days were used in the study. Paraffin slices were stained with Mayer haematoxylin and eosin with Masson method and silvered. The histochemical reactions were carried out for catecholamines and the biochemical determinations of catecholamines. Ultrastructural observations were also performed. In the adrenal medulla of sexually mature guinea pigs numerous epinephrocites and no noreoinefrocites were observed when histochemical methods were used. The small and large ganglion cells accompanying the supporting and neurolemmal cells formed typical gangliar weaving (medullary ganglia). Apart from epinephrocytes, small and large ganglion cells and supporting and neurolemmal cells, small intensively fluorescent (SIF) cells were also detected. Biochemical investigation revealed that the mean content of adrenaline calculated for a pair of adrenal glands was 98.87% of the pool of catecholamines, whereas the mean content of noradrenaline was 1.00%, and of dopamine 0.13%.
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