Malattia di Gaucher
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Malattia di Gaucher

Malattia di Gaucher


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About the Book

La malattia di Gaucher (GD) è una malattia genetica rara con eredità autosomica recessiva. È una malattia da sovraccarico lisosomiale legata a un deficit innato dell'attività della beta-glucocerebrosidasi. Attraverso una serie monocentrica di 9 casi di MG nel Dipartimento di Medicina Interna di Sfax-TUNISIA e una revisione della letteratura, ricordiamo le caratteristiche epidemiologiche, cliniche, terapeutiche ed evolutive della MG di tipo 1 (MG1), che rappresenta la forma più frequente e meno grave di questa patologia. Abbiamo identificato 9 pazienti nel periodo 1996-2024, con un'età media di 28,3 anni (range 17-51 anni). La MG è stata diagnosticata nell'infanzia in 2 casi (all'età di 4 e 9 anni) e in altri due casi (all'età di 45 e 46 anni) in tarda età, oltre i 40 anni. I genitori dei pazienti erano cugini di primo grado in 5 casi e lo screening sistematico ha rivelato la presenza di MG nei fratelli solo in un caso. In 1 caso la MG è stata scoperta durante la gravidanza. L'interrogatorio dei pazienti ha rivelato astenia in 5 casi e dolore osseo in 3 casi.


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Product Details
  • ISBN-13: 9786208814601
  • Publisher: Edizioni Sapienza
  • Publisher Imprint: Edizioni Sapienza
  • Height: 229 mm
  • No of Pages: 92
  • Returnable: N
  • Weight: 186 gr
  • ISBN-10: 620881460X
  • Publisher Date: 31 Mar 2025
  • Binding: Paperback
  • Language: Italian
  • Returnable: N
  • Spine Width: 6 mm
  • Width: 152 mm


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