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01-04-2012 | Original Article

Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment

Authors: Catherine Quinlan, Katie Guegan, Amaka Offiah, Richard O’ Neill, Melanie P. Hiorns, Sian Ellard, Detlef Bockenhauer, William Van’t Hoff, Aoife M. Waters

Published in: Pediatric Nephrology | Issue 4/2012

Abstract

Inactivating mutations in phosphate-regulating endopeptidase (PHEX) cause X-linked hypophosphatemic rickets (XLHR) characterized by phosphaturia, hypophosphatemia, bony deformities, and growth retardation. We assessed the efficacy of combined calcitriol and orally administered phosphate (Pi) therapy on longitudinal growth in relation to age at treatment onset in a retrospective, single-center review of children with XLHR and documented PHEX mutations. Growth was compared in those who started treatment before (G1; N = 10; six boys) and after (G2; N = 13; five boys) 1 year old. Median height standard deviation score (HSDS) at treatment onset was normal in G1: 0.1 [interquartile range (IR) −1.3 to 0.4) and significantly (p = 0.004) lower in G2 (IR −2.1 (−2.8 to −1.4). Treatment duration was similar [G1 8.5 (4.0–15.2) vs G2 11.9 (6.2–14.3) years; p = 0.56], as were prescribed phosphate and calcitriol doses. Recent HSDS was significantly (p = 0.009) better in G1 [−0.7 (−1.5 to 0.3)] vs G2 [−2.0 (−2.3 to −1.0)]. No effects of gender or genotype on growth could be identified. Children with PHEX-associated XLHR benefit from early treatment and can achieve normal growth. Minimal catchup growth was seen in those who started treatment later. Our findings emphasize the importance of early diagnosis to allow treatment before growth has been compromised.

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Title: Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment
Authors: Catherine Quinlan
Katie Guegan
Amaka Offiah
Richard O’ Neill
Melanie P. Hiorns
Sian Ellard
Detlef Bockenhauer
William Van’t Hoff
Aoife M. Waters
Publication date: 01-04-2012
Publisher: Springer-Verlag
Published in: Pediatric Nephrology / Issue 4/2012
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-011-2046-z

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Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment

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