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An approach to non-neoplastic renal biopsies
Pathology (2013) 45(S1), pp. S7–S11
Anatomical Pathology, Oral and Maxillofacial Pathology including workshops
METABOLIC LIVER DISEASES: THE CHANGING APPROACH TO DIAGNOSIS – THE ROLE OF ANATOMICAL PATHOLOGY C. W. Chow The Royal Children’s Hospital, Melbourne, Vic, Australia The diagnosis of metabolic diseases affecting the liver in children is a team approach involving the paediatrican, geneticist, metabolic physician, biochemist, molecular biologist and the anatomical pathologist. With the advancement in biochemistry and molecular genetics in the last four decades, the role of anatomical pathology has become very small. It is now exceptionally rare for it to be used in the diagnosis of lysosomal, peroxisomal and fatty acid metabolic disorders. It is still used in some glycogenosis and diseases of mitochondrial dysfunction. For this, electron microscopy is essential, and when a liver biopsy is performed without a clear diagnosis, it is highly desirable to process a tiny part for ultrastructure, which can then be performed if considered useful after correlation of the light microscopy with clinical features. Lysosomes, peroxisomes, mitochondria, glycogen particles and lipid should be systematically checked as a routine. At autopsy tissues should be urgently retrieved for metabolic studies. However this should not replace a full autopsy when the presence and nature of a metabolic disease is uncertain. As this is a very specialised area and the number of cases is very small, expertise should be concentrated. The role of anatomical pathology must be regularly reviewed and updated.
METABOLIC LIVER DISEASES: THE CHANGING APPROACH TO DIAGNOSIS – THE ROLE OF BIOCHEMICAL AND MOLECULAR GENETIC TESTING K. H. Carpenter NSW Biochemical Genetics Service, The Children’s Hospital at Westmead, Westmead, NSW, Australia The investigation of a child with hepatic disease must include the large number of inherited metabolic conditions with a primary liver presentation. First line clues come from routine biochemistry with information from liver function tests supported by evidence of hypoglycaemia and/or renal tubular dysfunction. More specific biochemical genetic testing usually commences with urine organic and amino acids. These may reveal pathognomonic metabolites leading directly to a firm diagnosis and treatment regimen, e.g., tyrosinaemia type I or citrin deficiency. More often they give clues to the metabolic pathway involved but further specialised testing is required to confirm the diagnosis, e.g., fatty acid oxidation defects. Clinical clues pointing to peroxisomal disorders can be pursued by analysis of very long chain fatty acids in plasma and enzymology for lysosomal storage disorders can be performed on leucoytes. The mitochondrial respiratory chain defects are difficult
to identify on metabolite assays. A portion of tissue taken at liver biopsy should be snap frozen on dry ice and stored at −80°C for respiratory chain enzymology if required. Biochemical diagnosis has traditionally been confirmed by mutation detection using traditional PCR and Sanger sequencing of the target gene or genes. It is now becoming feasible and cost effective to perform targeted exome capture or whole exome or genome sequencing to identify the genetic defect in patients with metabolic liver disease.
AN APPROACH TO NON-NEOPLASTIC RENAL BIOPSIES Jeffrey Searle Sullivan Nicolaides Pathology, Brisbane, Qld, Australia The justification for a renal biopsy is its ability to provide information on diagnostic and prognostic features, and to guide management. These properties are considerably enhanced by close liaison between the reporting pathologist and the attending renal physician. The tissue is obtained almost invariably by percutaneous needle biopsy under ultrasound or CT guidance, and the proper handling of the sample to ensure an accurate diagnosis or a reasonable explanation to correlate with the clinical findings is essential. This handling will be outlined during the presentation, along with recommendations for processing the biopsy and its sectioning. The series of stains used at various levels that are regularly scrutinised for diagnostic assessment will be described. The kidney reacts in a limited number of ways to various types of injuries (e.g., infectious, immunological, toxic, haemodynamic, obstructive and metabolic) to produce a limited range of morphological lesions. Similarly, there are a limited number of clinical syndromes that manifest renal disease to match these morphological findings. Examples of the range of morphological appearances commonly encountered in renal biopsy interpretation will be presented and described, and this range (along with specific disease processes that produce them) will be made available online (courtesy of the RCPA).
DIAGNOSTIC CHALLENGES IN BREAST PATHOLOGY Sunil R. Lakhani Pathology Queensland, The University of Queensland School of Medicine, and the UQ Centre for Clinical Research, The Royal Brisbane & Women’s Hospital, Herston, Qld, Australia The use of needle core biopsies to evaluate abnormalities identified on breast screening is now well established. This together with an incomplete knowledge of the natural history of many disease processes has led to diagnostic challenges in the accurate classification of breast disease.
Print ISSN 0031-3025/Online ISSN 1465-3931 © 2013 Royal College of Pathologists of Australasia
Copyright © Royal College of pathologists of Australasia. Unauthorized reproduction of this article is prohibited.
Anatomical Pathology, Oral and Maxillofacial Pathology including workshops
METABOLIC LIVER DISEASES: THE CHANGING APPROACH TO DIAGNOSIS – THE ROLE OF ANATOMICAL PATHOLOGY C. W. Chow The Royal Children’s Hospital, Melbourne, Vic, Australia The diagnosis of metabolic diseases affecting the liver in children is a team approach involving the paediatrican, geneticist, metabolic physician, biochemist, molecular biologist and the anatomical pathologist. With the advancement in biochemistry and molecular genetics in the last four decades, the role of anatomical pathology has become very small. It is now exceptionally rare for it to be used in the diagnosis of lysosomal, peroxisomal and fatty acid metabolic disorders. It is still used in some glycogenosis and diseases of mitochondrial dysfunction. For this, electron microscopy is essential, and when a liver biopsy is performed without a clear diagnosis, it is highly desirable to process a tiny part for ultrastructure, which can then be performed if considered useful after correlation of the light microscopy with clinical features. Lysosomes, peroxisomes, mitochondria, glycogen particles and lipid should be systematically checked as a routine. At autopsy tissues should be urgently retrieved for metabolic studies. However this should not replace a full autopsy when the presence and nature of a metabolic disease is uncertain. As this is a very specialised area and the number of cases is very small, expertise should be concentrated. The role of anatomical pathology must be regularly reviewed and updated.
METABOLIC LIVER DISEASES: THE CHANGING APPROACH TO DIAGNOSIS – THE ROLE OF BIOCHEMICAL AND MOLECULAR GENETIC TESTING K. H. Carpenter NSW Biochemical Genetics Service, The Children’s Hospital at Westmead, Westmead, NSW, Australia The investigation of a child with hepatic disease must include the large number of inherited metabolic conditions with a primary liver presentation. First line clues come from routine biochemistry with information from liver function tests supported by evidence of hypoglycaemia and/or renal tubular dysfunction. More specific biochemical genetic testing usually commences with urine organic and amino acids. These may reveal pathognomonic metabolites leading directly to a firm diagnosis and treatment regimen, e.g., tyrosinaemia type I or citrin deficiency. More often they give clues to the metabolic pathway involved but further specialised testing is required to confirm the diagnosis, e.g., fatty acid oxidation defects. Clinical clues pointing to peroxisomal disorders can be pursued by analysis of very long chain fatty acids in plasma and enzymology for lysosomal storage disorders can be performed on leucoytes. The mitochondrial respiratory chain defects are difficult
to identify on metabolite assays. A portion of tissue taken at liver biopsy should be snap frozen on dry ice and stored at −80°C for respiratory chain enzymology if required. Biochemical diagnosis has traditionally been confirmed by mutation detection using traditional PCR and Sanger sequencing of the target gene or genes. It is now becoming feasible and cost effective to perform targeted exome capture or whole exome or genome sequencing to identify the genetic defect in patients with metabolic liver disease.
AN APPROACH TO NON-NEOPLASTIC RENAL BIOPSIES Jeffrey Searle Sullivan Nicolaides Pathology, Brisbane, Qld, Australia The justification for a renal biopsy is its ability to provide information on diagnostic and prognostic features, and to guide management. These properties are considerably enhanced by close liaison between the reporting pathologist and the attending renal physician. The tissue is obtained almost invariably by percutaneous needle biopsy under ultrasound or CT guidance, and the proper handling of the sample to ensure an accurate diagnosis or a reasonable explanation to correlate with the clinical findings is essential. This handling will be outlined during the presentation, along with recommendations for processing the biopsy and its sectioning. The series of stains used at various levels that are regularly scrutinised for diagnostic assessment will be described. The kidney reacts in a limited number of ways to various types of injuries (e.g., infectious, immunological, toxic, haemodynamic, obstructive and metabolic) to produce a limited range of morphological lesions. Similarly, there are a limited number of clinical syndromes that manifest renal disease to match these morphological findings. Examples of the range of morphological appearances commonly encountered in renal biopsy interpretation will be presented and described, and this range (along with specific disease processes that produce them) will be made available online (courtesy of the RCPA).
DIAGNOSTIC CHALLENGES IN BREAST PATHOLOGY Sunil R. Lakhani Pathology Queensland, The University of Queensland School of Medicine, and the UQ Centre for Clinical Research, The Royal Brisbane & Women’s Hospital, Herston, Qld, Australia The use of needle core biopsies to evaluate abnormalities identified on breast screening is now well established. This together with an incomplete knowledge of the natural history of many disease processes has led to diagnostic challenges in the accurate classification of breast disease.
Print ISSN 0031-3025/Online ISSN 1465-3931 © 2013 Royal College of Pathologists of Australasia
Copyright © Royal College of pathologists of Australasia. Unauthorized reproduction of this article is prohibited.