Literature DB >> 18379770

Splenic nodules in paediatric Gaucher disease treated by enzyme replacement therapy.

Samantha Chippington1, Kieran McHugh, Ashok Vellodi.   

Abstract

BACKGROUND: The natural history of focal splenic lesions in paediatric Gaucher disease (GD) is unknown and these lesions are thought to persist despite enzyme replacement therapy (ERT).
OBJECTIVE: To assess the prevalence, evolution and resolution of splenic nodules in a cohort of paediatric Gaucher patients treated with ERT.
MATERIALS AND METHODS: The US findings in 37 children with GD were retrospectively reviewed. A total of 28 children underwent serial abdominal US examinations as part of their initial assessment and during routine follow-up. All patients received ERT.
RESULTS: Six children (21%) had splenic nodules on US examination, either at presentation or on follow-up examination. In all six patients, the nodules had resolved on follow-up imaging, with resolution taking 17 months to 4 years 8 months. Two sets of siblings developed nodules that resolved over a similar time period.
CONCLUSION: Disappearance of focal splenic lesions in children with GD during follow-up has not been previously reported. The development of new focal splenic lesions in children with GD whilst on ERT has not been previously documented.

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Year:  2008        PMID: 18379770     DOI: 10.1007/s00247-008-0811-3

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN: 0301-0449


  12 in total

1.  Recommendations for diagnosis, evaluation, and monitoring of patients with Gaucher disease.

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Journal:  Arch Intern Med       Date:  1999-06-14

2.  Multiple splenic nodules revealing Gaucher's disease.

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Journal:  Histopathology       Date:  2002-02       Impact factor: 5.087

3.  Abdominal ultrasound findings mimicking hematological malignancies in a study of 218 Gaucher patients.

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Journal:  Am J Hematol       Date:  1997-05       Impact factor: 10.047

4.  METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE.

Authors:  R O BRADY; J N KANFER; D SHAPIRO
Journal:  Biochem Biophys Res Commun       Date:  1965-01-18       Impact factor: 3.575

5.  Gaucher disease: abdominal MR imaging findings in 46 patients.

Authors:  S C Hill; B M Damaska; A Ling; K Patterson; A M Di Bisceglie; R O Brady; N W Barton
Journal:  Radiology       Date:  1992-08       Impact factor: 11.105

Review 6.  Enzyme therapy for Gaucher disease: the first 5 years.

Authors:  G A Grabowski; N Leslie; R Wenstrup
Journal:  Blood Rev       Date:  1998-06       Impact factor: 8.250

Review 7.  Gaucher disease: recommendations on diagnosis, evaluation, and monitoring.

Authors:  J Charrow; J A Esplin; T J Gribble; P Kaplan; E H Kolodny; G M Pastores; C R Scott; R S Wappner; N J Weinreb; J S Wisch
Journal:  Arch Intern Med       Date:  1998-09-14

8.  Repeat abdominal ultrasound evaluation of 100 patients with type I Gaucher disease treated with enzyme replacement therapy for up to 7 years.

Authors:  Michael Patlas; Irith Hadas-Halpern; Ayala Abrahamov; Ari Zimran; Deborah Elstein
Journal:  Hematol J       Date:  2002

9.  Spectrum of abdominal sonographic findings in 103 pediatric patients with Gaucher disease.

Authors:  Michael Patlas; Irith Hadas-Halpern; Aya Abrahamov; Deborah Elstein; Ari Zimran
Journal:  Eur Radiol       Date:  2001-09-07       Impact factor: 5.315

Review 10.  Gaucher disease in children: radiology of non-central nervous system manifestations.

Authors:  K McHugh; Ø E Olsen E; A Vellodi
Journal:  Clin Radiol       Date:  2004-02       Impact factor: 2.350

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  2 in total

1.  Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage-targeted enzyme replacement therapy.

Authors:  Philip Stein; Advitya Malhotra; Andrew Haims; Gregory M Pastores; Pramod K Mistry
Journal:  J Inherit Metab Dis       Date:  2010-08-04       Impact factor: 4.982

2.  Rare Case of Hepatic Gaucheroma in a Child on Enzyme Replacement Therapy.

Authors:  Sophy Korula; Penny Owens; Amanda Charlton; Kaustuv Bhattacharya
Journal:  JIMD Rep       Date:  2016-06-23
  2 in total

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