Losartan improves clinical outcome in Camurati Engelmann Disease
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ORAL PRESENTATION
Open Access
Losartan improves clinical outcome in Camurati Engelmann Disease Ahila Ayyavoo1,2*, Tim Cundy2, José GB Derraik1, Paul L Hofman1,2 From 7th APPES Biennial Scientific Meeting Nusa Dua, Bali. 14-17 November 2012
We hypothesized that losartan would help in achieving clinical remission in CED (Camurati Engelmann Disease) patients by blocking TGFB1(transforming growth factor beta 1) with fewer side-effects than steroids. CED characterised by progressive diaphyseal dysplasia is associated with debilitating bone pain in the limbs, muscle weakness, fatiguability and waddling gait [1]. Clinical manifestations are due to mutations in the TGFB1 gene leading to its over-expression and effect on bone. Losartan is an antagonist of TGFB1 and it slows the progress of aortic root dilatation inMarfan’s syndrome by blocking the over-expression of TGFB1 [2]. Steroids which have long been used for treatment of CED and been linked to long term side effects including those on growth, blood pressure and spinal osteoporosis. A 10 year old child with mutation is in exon 4, position C652T causing an R218C amino acid substitution on chromosome 19q13 had severe limitation of activity since 4 years of age due to pain in the limbs. She underwent a physical examination, a dual energy xray Table 1 Age at analysis(years)
9.3
10.1
10.7
Cumulative pain score
9
1.75
0.25
6 minute walk test(metres)
171
405
414
DEXA weight(kgs) Height(cms)
17.42 123.6
17.01 128.3
20.01 131.7
Fat(gms)
1702
1253
2693
Lean(gms)
14963
14957
16425
BMC(gms)
754.9
805
890.2
A/G ratio
0.29
0.23
0.39
Total body fat%
10.2
7.7
14.1
BMD gm/cm2
0.845
0.873
0.887
absorptiometry scan(DEXA), pain score and 6 minute walk test prior to the start of losartan with a repeat of the tests 9 and 17 months later. She is being treated with losartan at a dose of 0.75mg/kg/day. Table 1. Losartan improves the quality of life in children with CED by reducing the bone pain along with improvement in their activity levels, fat & muscle mass, without major effects on growth, blood pressure and spinal osteoporosis. Authors’ details 1 Liggins Institute, University of Auckland, Auckland, New Zealand. 2Greenlane Clinical Centre, Auckland District Health Board, Auckland, New Zealand. Published: 3 October 2013 References 1. Janssens K, Vanhoenacker F, Bonduelle M, et al: Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment. Journal of Medical Genetics 2006, 43:1. 2. Brooke BS, Habashi JP, Judge DP, Patel N, Loeys B, Dietz HC III: Angiotensin II blockade and aortic-root dilation in Marfan’s syndrome. New England Journal of Medicine 2008, 358:2787-95. doi:10.1186/1687-9856-2013-S1-O42 Cite this article as: Ayyavoo et al.: Losartan improves clinical outcome in Camurati Engelmann Disease. International Journal of Pediatric Endocrinology 2013 2013(Suppl 1):O42.
1 Liggins Institute, University of Auckland, Auckland, New Zealand Full list of author info
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