scholarly journals Clinicopathologic and ultrastructural findings of hereditary nephritis; a 16-year single center survey in Iran

2020 ◽  
Vol 9 (2) ◽  
pp. e17-e17
Author(s):  
Seyed Mohammad Owji ◽  
Hadi Raeisi Shahraki ◽  
Naser Pajouhi ◽  
Seyed Hossein Owji ◽  
Farshad Dehghani

Introduction: Hereditary nephritis is an umbrella term for a group of congenital childhood diseases including but not limited to Alport syndrome, thin basement membrane disease, and Fabry disease. Objectives: The purpose of this study was a clinicopathologic investigation of Alport syndrome, thin basement membrane disease, and Fabry disease with a focus on the role of electron microscopy and toluidine blue staining in diagnosis. Patients and Methods: In this cross-sectional study, we investigated kidney biopsies with a final diagnosis of either Alport syndrome, thin basement membrane disease or Fabry disease from 2001 to 2016. Electron microscopy and light microscopy were done and the clinical and paraclinical data were extracted from the patients’ medical charts. Electron microscopy role was assessed in terms of necessary, helpful or non-necessary, while correlations between clinical and para-clinical data were determined using appropriate statistical tests. Results: Among the 2865 kidney biopsies, there were 22 patients of hereditary nephritis including 15 (0.52%) Alport syndrome, 5 (0.17%) thin basement membrane disease and 2 (0.07%) Fabry disease diagnosed by electron microscopy. Electron microscopy was essential for the diagnosis of 19 (86.4%) cases, helpful for 3(13.6%) and there was no case for which electron microscopy was non-necessary. The patients’ mean age was 16.1 ± 9.0 years. The most common finding in Alport syndrome was proteinuria (86.7%) followed by hematuria (60.0%). Conclusion: Considering the rate of misdiagnosis of hereditary nephritis using light microscopy and clinical findings alone, electron microscopy study and toluidine blue staining has an essential role in the precise diagnosis in these patients. With regard to the progressive nature of these diseases, prompt diagnosis using electron microscopy is pertinent for therapeutic decisions.

Author(s):  
B. Giammara ◽  
E. Anderson ◽  
P. Yates ◽  
J. Hanker

Although periodic acid-Schiff(PAS) type reactions have been applied to nervous tissues for many years, interest has centered upon staining glycolipids, principally myelin constituents such as the class of sphingolipids. The staining of these compounds such as sphingomyelin has generally been attributed to the presence of amino and hydroxyl groups on adjacent carbon atoms of carbohydrate of the sphingosine moiety. But unsaturated lipids also give the reaction and sphingolipids stain even if carbohydrate moieties are absent. This reaction has been used for staining myelin sheaths but lipid solvents must be avoided in processing the specimens. Toluidine blue staining of semi-thin sections of epoxy- embedded nerve specimens has also been widely used to study regenerating fibers after nerve transection or avulsion. A recent study was made in our laboratories of conduits (sleeves) tailored from biodegradable polyester (VicrylR) mesh to guide the reconnection of regenerating fibers from the proximal stump of a rat sciatic nerve, across an 11 mm gap, with fibers in the distal stump of the interrupted nerve. Complete reconnection of the stumps was observed as early as one month after creating the avulsive nerve injury.Comparison of transverse sections of the repaired sciatic with sections of control nerve with the toluidine blue stain, however, showed little evidence of axonal regeneration after one month (Figs. 1,3). A variation of the PAS reaction (depositing silver) for light and electron microscopy developed in our laboratories (PATS reaction, 5) was than applied to the study of the semi-thin sections of the epoxy-embedded control and repaired sciatic nerves of the same rat one month postsurgery. Correlative light and scanning electron microscopy by SEI and BEI modes could then be performed since the PATS reaction produced very satisfactory staining of the semi-thin sections (Figs. 3-5). Myelin was not stained by the PATS reaction in these specimens since the nerves had been processed with lipid solvents for epoxy embedment. Schwann cells, however, were very prominent in control but not in the repaired nerve. The inner layers of endoneurium and all pericapillaries associated with nerve fibers were intensely stained due to their reticulin content in both control and repaired nerve (Figs. 2,4). This was not unexpected because the PATS reaction employs a silver methenamine reagent. Thus, with the PATS reaction axons could be identified in sections of repaired nerve (Fig. 4) that could not be discerned with toluidine blue staining (Fig. 3). In sections of repaired nerve stained with either toluidine blue or the PATS reaction few axons or axis cylinders were observed but more were seen with the PATS stain (Figs. 3,4). In control nerve sections stained with either procedure many were seen (Figs. 1,2).


2018 ◽  
Vol 29 (4) ◽  
pp. 470-480
Author(s):  
Junxiang Wen ◽  
Yingchao Han ◽  
Song Guo ◽  
Mingjie Yang ◽  
Lijun Li ◽  
...  

OBJECTIVERespiratory dysfunction is the leading cause of mortality following upper cervical spinal cord injury (SCI). The authors’ previous study suggested that vagus nerve (VN) and phrenic nerve (PN) anastomosis could partially improve respiratory function in rabbits that had been subjected to PN transection. As a branch of the VN and a motor fiber–dominated nerve, the recurrent laryngeal nerve (RLN) seems a better choice to anastomose with the PN for respiratory function restoration after upper cervical SCI. This study was designed to determine whether RLN-PN anastomosis could restore the respiratory function after upper cervical SCI in rabbits.METHODSTwelve male New Zealand rabbits were randomly divided into 3 groups: 1) sham group (no injury), 2) transection group (right RLN and PN were transected), and 3) bridge group (transected right RLN and PN were immediately anastomosed). Spontaneous discharges of the RLN and PN were compared using a bio-signal collection system. RLN and PN cross sections were stained for acetylcholinesterase (AChE), and the numbers of motor fibers were compared. Three months after the initial surgical procedures, the movement of the diaphragm was assessed using a digital subtraction angiography (DSA) system, and discharges from the right diaphragm muscle were recorded. Toluidine blue staining, electron microscopy, and staining for AChE were used to assess whether motor fibers from the RLN regenerated into the PN, and sections of diaphragm were examined after AChE staining to assess the motor endplates.RESULTSBoth the RLN and PN exhibited highly rhythmic discharges, synchronized with respiration, and most fibers in the RLN and PN were found to be motor fibers. Numerous myelinated fibers were observed in anastomosed PN using toluidine blue staining and electron microscopy. Staining for AChE showed that those regenerated fibers had typical characteristics of motor fibers, and motor endplates with typical morphological characteristics were observed in the diaphragm. Reestablished rhythmic contraction of the hemidiaphragm was directly observed using the DSA system, and rhythmic spontaneous discharge was recorded from the reinnervated hemidiaphragm using the bio-signal collection system.CONCLUSIONSMotor fibers from the RLN could regenerate into the PN after end-to-end anastomosis and reinnervate the denervated hemidiaphragm in rabbits. Those regenerated motor fibers restored rhythmic and autonomic movement of the paralyzed diaphragm. These results suggest that the RLN is an optimal donor nerve to anastomose with the PN in order to reestablish the autonomic movement of paralyzed diaphragms after high-level SCI.


2018 ◽  
Vol 104 (3) ◽  
pp. 177-182
Author(s):  
D O’Brien ◽  
K Houlberg

AbstractAsymptomatic non-visible haematuria is a common finding at routine military medical examinations. This article briefly reviews the possible causes, which include malignancy, structural causes, exertion haematuria, hereditary nephritis, thin basement membrane disease (TBMD), immunoglobulin A nephropathy (IgAN), tuberculosis (TB) and schistosomiasis. This paper discusses how these conditions may affect potential military recruits as well as currently serving members of the Armed Forces, and offers a general approach to the management of a patient with non-visible haematuria.


2020 ◽  
Vol 64 (4) ◽  
pp. 375-377
Author(s):  
Ekkehard Hewer ◽  
Anja M. Schmitt

Rapid on-site evaluation (ROSE) is one of cytopathology’s “unique selling propositions.” The quality, speed, and ease of handling of the staining used is a critical factor for the efficacy of the ROSE procedure. Here, we describe a modification of rapid toluidine blue staining that can be performed within 25 s, provides excellent nuclear morphology, and is compatible with subsequent Papanicolaou staining of the slides. Furthermore, exposure to hazardous chemicals is minimized, as no organic solvents other than the alcohol-based fixative and glycerin for temporary mounting and coverslipping are required. We have used this protocol successfully in our ROSE practice and have not observed any discrepancies between toluidine blue- and permanent Papanicolaou-stained slides.


2015 ◽  
Vol 84 (3) ◽  
pp. 201-204
Author(s):  
Jakub Żurawski

Initially, the thin glomerular basement membrane disease was called “a gentle and curable hemorrhagic nephritis”. The thin basement membrane disease has been finally characterized at the beginning of 1970s. This is when the connection between previously clinically described gentle microhematuria and significant thinning of glomerular basement membrane discovered during examination under the electron-microscope has been established. Ultimately, the disease has been described as a condition characterized with a diverse clinical course, usually mild, but sometimes progressive. It is a family conditioned disease, but it also appears sporadically and concerns at least 1% of the population. It has also been stated that it is one of the most frequent renal diseases, enumerated directly after changes caused by infections, hypertension and renal lithiasis. This particular disease is diagnosed more often than IgA nephropathy and Alport syndrome, which are also associated with haematuria or microhematuria.


2020 ◽  
Vol 13 (6) ◽  
pp. 1025-1036 ◽  
Author(s):  
Andreas Matthaiou ◽  
Tsielestina Poulli ◽  
Constantinos Deltas

Abstract Background Patients heterozygous for COL4A3 or COL4A4 mutations show a wide spectrum of disease, extending from familial isolated microscopic haematuria, as a result of thin basement membranes (TBMs), to autosomal dominant Alport syndrome (ADAS) and end-stage renal disease (ESRD). Many patients are mentioned in the literature under the descriptive diagnosis of TBM nephropathy (TBMN), in which case it actually describes a histological finding that represents the carriers of autosomal recessive Alport syndrome (ARAS), a severe glomerulopathy, as most patients reach ESRD at a mean age of 25 years. Methods We performed a systematic literature review for patients with heterozygous COL4A3/A4 mutations with the aim of recording the spectrum and frequency of pathological features. We searched three databases (PubMed, Embase and Scopus) using the keywords ‘Autosomal Dominant Alport Syndrome’ OR ‘Thin Basement Membrane Disease’ OR ‘Thin Basement Membrane Nephropathy’. We identified 48 publications reporting on 777 patients from 258 families. Results In total, 29% of the patients developed chronic kidney disease (CKD) and 15.1% reached ESRD at a mean age of 52.8 years. Extrarenal features and typical Alport syndrome (AS) findings had a low prevalence in patients as follows: hearing loss, 16%; ocular lesions, 3%; basement membrane thickening, 18.4%; and podocyte foot process effacement, 6.9%. Data for 76 patients from 54 families emphasize extensive inter- and intrafamilial heterogeneity, with age at onset of ESRD ranging between 21 and 84 years (mean 52.8). Conclusions The analysis enabled a comparison of the clinical course of patients with typical ARAS or X-linked AS with those with heterozygous COL4A mutations diagnosed with TBMN or ADAS. Despite the consequence of a potential ascertainment bias, an important outcome is that TBM poses a global high risk of developing severe CKD, over a long follow-up, with a variable spectrum of other findings. The results are useful to practicing nephrologists for better evaluation of patients.


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