Morphological assessment of thin basement membrane disease.

Thin basement membrane disease is more common than IgA nephropathy or Alport syndrome, which are also associated with the presence of erythrocyturia. Very few reports on the disorder are available in the Polish literature. The objective of this work was to analyze the results from 83 patients with thin basement membrane syndrome as well as to formulate a proposal of strict morphological assessment criteria for the disorder. Attention was drawn to the requirement of thickness of the lamina densa rather than the entire basement membrane thickness and a sufficiently high number of loops featuring thinned lamina densa, namely at least 80% of loops, being taken into account. Occurrence of other morphological changes associated with the disorder and clinical symptoms other than erythrocyturia was also highlighted.

[Neurological alterations and intellectual deficits with sudden visual loss in a 7-year-old boy]. / Neurologische Veränderungen und intellektuelle Defizite mit plötzlichem Visusabfall bei einem 7-jährigen Jungen.

Neuronal ceroid-lipofuscinoses (NLC) are a clinically and genetically heterogeneous group of lysosomal storage diseases. The most common NCL is the juvenile type which begins between the ages of 4 and 10 years in most cases with sudden visual loss which correlates with maculopathy and leads to blindness within a few years of presentation. After several years neurological deterioration ensues and in most cases death occurs in the 3rd decade of life. As with other storage disorders NCL is an incurable disease.

Morphological and mechanical changes in juxtarenal aortic segment and aneurysm before and after open surgical repair of abdominal aortic aneurysms.

OBJECTIVE: The aim of study was to assess how the ultrastructure of the wall of aortic aneurysms, sac and neck influences aortic wall distensibility and proximal dilatation 2 years after open repair. METHODS: Biopsies for electron microscopy were taken from aneurysmal sac and neck of 30 patients. Patients were assessed by computed tomography (CT) and ultrasound for aneurysm diameter and distensibility (M-mode ultrasonography). RESULTS: Postoperative CT of the aortic stump distinguished two groups. Group I (n = 11) with little enlargement, median 1 mm (1-3 mm) and group II (n = 19) with significant aortic enlargement, median 5.2 mm (4-12 mm). In group II, changes in elastic fibres in the aneurysm neck were comparable to, but as extreme as in the aneurysm sac. For group I, the distensibility of the aneurysmal sac was significantly lower than in the neck or at the renal arteries. For group II, the distensibility in both the neck and sac was significantly lower than at the juxtarenal segment (p = 0.01). The biopsies of group II patients showed the extensive degeneration of normal architecture, which was associated with altered wall distensibility in both the aneurysmal neck and sac. CONCLUSIONS: Disorganisation and destruction of normal aortic architecture at the ultrastructural level are associated with decreasing aortic distensibility. Low aortic neck distensibility is associated with proximal aortic dilatation at 2 years postoperatively.

Correlation between the stage of cystic fibrosis and the level of morphological changes in adult patients.

The aim of this study was to evaluate the correlation between the stage of cystic fibrosis and the intensity of accompanying morphological changes--including transmission electron microscopy--within bronchial mucosa. The stage of the disease was assessed on the basis of clinical status and radiological and endoscopic examination. We focused on morphological changes in epithelial cells, the presence of metaplasia and/or dysplasia, the type of inflammatory infiltrate, and the presence of epithelial ulcerations, thickening of epithelial basement membrane and collagenization of lamina propria. We found two clinically different patients groups. The first one was in a poor clinical condition, advanced inflammatory fiberoptic bronchoscopy and radiological changes, multiple exacerbations, and with chronic inflammation and only focal appearance of ciliated epithelium. Moreover, squamous cell metaplasia and dysplasia was diagnosed in 3 and 4 cases, respectively. The other group, in a better clinical condition, had normal BMI and small changes on chest Xray. In this group the diagnosis of cystic fibrosis was made at later age. Two patients from this group displayed features of acute phase; ciliated epithelium was covering the whole sample. After statistical analysis, we found a correlation between the clinical course and the morphological changes in bronchial mucosa. Bronchial ulcerations, squamous cell metaplasia and dysplasia were found in the group with the more severe clinical course.