The role of ultrastructural examination in storage diseases

Valentina Papa, Lucia Tarantino, Paola Preda, Lucilla Badiali De Giorgi, Marina Fanin, Elena Pegoraro, Corrado Angelini, Giovanna Cenacchi

Research output: Contribution to journalArticle

Abstract

Storage diseases (SDs) are rare metabolic disorders characterized by the intra- or extralysosomal accumulation of unmetabolized compounds. Different causes determine the buildup of undigested material, resulting in typical histochemical and ultrastructural changes. Ultrastructural examination of tissue from patients with clinically suspected SDs may disclose pathognomonic alterations or suggest a differential diagnosis even in the absence of clinically evident involvement of the biopsied tissue. Accurate diagnosis of SDs requires a continuous integration of clinical, biochemical, ultrastructural, and, when available, molecular data. It is also important for the pathologist to be familiar with the morphological variability characterizing each SD, because some morphologies are often the early stages of undeveloped forms and morphologically similar diseases are easily confused. The major advantages of transmission electron microscopy (TEM) techniques are discussed, emphasizing the current role of TEM as a rapid, cost-effective, and efficient diagnostic tool.

Original languageEnglish
Pages (from-to)243-251
Number of pages9
JournalUltrastructural Pathology
Volume34
Issue number5
DOIs
Publication statusPublished - Oct 2010

Fingerprint

Transmission Electron Microscopy
Metabolic Diseases
Rare Diseases
Differential Diagnosis
Costs and Cost Analysis
Pathologists

Keywords

  • Electron microscopy
  • Lysosome
  • Storage disease

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Structural Biology

Cite this

Papa, V., Tarantino, L., Preda, P., Badiali De Giorgi, L., Fanin, M., Pegoraro, E., ... Cenacchi, G. (2010). The role of ultrastructural examination in storage diseases. Ultrastructural Pathology, 34(5), 243-251. https://doi.org/10.3109/01913121003780593

The role of ultrastructural examination in storage diseases. / Papa, Valentina; Tarantino, Lucia; Preda, Paola; Badiali De Giorgi, Lucilla; Fanin, Marina; Pegoraro, Elena; Angelini, Corrado; Cenacchi, Giovanna.

In: Ultrastructural Pathology, Vol. 34, No. 5, 10.2010, p. 243-251.

Research output: Contribution to journalArticle

Papa, V, Tarantino, L, Preda, P, Badiali De Giorgi, L, Fanin, M, Pegoraro, E, Angelini, C & Cenacchi, G 2010, 'The role of ultrastructural examination in storage diseases', Ultrastructural Pathology, vol. 34, no. 5, pp. 243-251. https://doi.org/10.3109/01913121003780593
Papa V, Tarantino L, Preda P, Badiali De Giorgi L, Fanin M, Pegoraro E et al. The role of ultrastructural examination in storage diseases. Ultrastructural Pathology. 2010 Oct;34(5):243-251. https://doi.org/10.3109/01913121003780593
Papa, Valentina ; Tarantino, Lucia ; Preda, Paola ; Badiali De Giorgi, Lucilla ; Fanin, Marina ; Pegoraro, Elena ; Angelini, Corrado ; Cenacchi, Giovanna. / The role of ultrastructural examination in storage diseases. In: Ultrastructural Pathology. 2010 ; Vol. 34, No. 5. pp. 243-251.
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