TY - JOUR
T1 - Prevalence and characteristics of paediatric X-linked hypophosphataemia in Australia and New Zealand
T2 - Results from the Australian and the New Zealand Paediatric Surveillance Units survey
AU - Sandy, Jessica L.
AU - Nunez, Carlos
AU - Wheeler, Benjamin J.
AU - Jefferies, Craig
AU - Morris, Anne
AU - Siafarikas, Aris
AU - Rodda, Christine P.
AU - Simm, Peter
AU - Biggin, Andrew
AU - Aum, Sonya
AU - Elliot, Elizabeth J.
AU - Munns, Craig F.
N1 - Funding Information:
This work was supported by Kyowa Kirin; Elizabeth Elliott is supported by an NHMRC and Medical Research Futures Fund Next Generation Fellowship (#MRF1135959); Sonya Aum was supported by the Otago Medical School Summer Research Scholarship. We acknowledge the New Zealand Paediatric Surveillance Unit staff and the Australian Paediatric Surveillance Unit staff who manage case notifications and data, especially Dannielle Handel, Suzy Teutsch, and Guy Eslick. We acknowledge all paediatricians and other child health specialists who participated in this study and for their ongoing support of the APSU and NZPSU. The APSU receives funding for selected surveillance studies from The Australian Government Department of Health. The APSU is supported in kind by the Royal Australasian College of Physicians (Paediatrics and Child Health Division); The University of Sydney's Faculty of Medicine and Health, Sydney Medical School, and Discipline of Child and Adolescent Health; and Kids Research at the Sydney Children's Hospitals Network (Westmead).
Funding Information:
This work was supported by Kyowa Kirin ; Elizabeth Elliott is supported by an NHMRC and Medical Research Futures Fund Next Generation Fellowship (# MRF1135959 ); Sonya Aum was supported by the Otago Medical School Summer Research Scholarship .
Publisher Copyright:
© 2023
PY - 2023/8
Y1 - 2023/8
N2 - Background: X-linked hypophosphataemia (XLH) is the most common heritable form of rickets. Prevalence data varies across the literature between 1 in 20,000 and 1 in 200,000 per population. Methods: Australian and New Zealand Paediatric Surveillance Units collected cross-sectional data from paediatricians on existing cases to estimate prevalence and characteristics of paediatric XLH in Australia and New Zealand. Results: Seventy-five cases in Australia and 18 cases in New Zealand were identified. Estimated minimum prevalence based on these cases was 1.33 (1.04–1.66) per 100,000 and 1.60 per 100,000 (95%CI 0.97–2.58) in Australia and New Zealand respectively, with actual prevalence likely higher due to incomplete ascertainment. Despite a family history in most cases, delayed diagnosis was common, with 49 % diagnosed after 2 years of age. Delayed diagnosis was more common in sporadic versus familial cases. Most common clinical characteristics included leg bowing (89 %), bone and joint pain (68 %), abnormal gait (57 %) and short stature (49 %). There was a significant burden of orthopaedic disease and surgeries and a high rate of complications of nephrocalcinosis and hyperparathyroidism (32 % and 20 % respectively). Additionally, while guidelines stress the importance of multidisciplinary care, many did not have access to recommended health professionals, with only 3 % seeing a psychologist and 68 % seeing a dentist. This is despite the high psychological burden of XLH and a significant proportion (41 %) of this cohort having dental issues (tooth abscess, dental capping, tooth extraction). There were two cases from NZ without data available. Of the 91 cases with data collected, 46 % were on burosumab therapy. Consistent with clinical trials, those on burosumab had a higher serum phosphate levels (p < 0.001) at most recent follow-up. Three cases reported cancellation of orthopaedic surgery due to improvement in lower limb deformity after commencement of burosumab. Conclusion: These data describe the multisystem burden of disease for children with XLH with care impacted by delayed diagnosis and a lack of access to many health professionals, especially psychological support.
AB - Background: X-linked hypophosphataemia (XLH) is the most common heritable form of rickets. Prevalence data varies across the literature between 1 in 20,000 and 1 in 200,000 per population. Methods: Australian and New Zealand Paediatric Surveillance Units collected cross-sectional data from paediatricians on existing cases to estimate prevalence and characteristics of paediatric XLH in Australia and New Zealand. Results: Seventy-five cases in Australia and 18 cases in New Zealand were identified. Estimated minimum prevalence based on these cases was 1.33 (1.04–1.66) per 100,000 and 1.60 per 100,000 (95%CI 0.97–2.58) in Australia and New Zealand respectively, with actual prevalence likely higher due to incomplete ascertainment. Despite a family history in most cases, delayed diagnosis was common, with 49 % diagnosed after 2 years of age. Delayed diagnosis was more common in sporadic versus familial cases. Most common clinical characteristics included leg bowing (89 %), bone and joint pain (68 %), abnormal gait (57 %) and short stature (49 %). There was a significant burden of orthopaedic disease and surgeries and a high rate of complications of nephrocalcinosis and hyperparathyroidism (32 % and 20 % respectively). Additionally, while guidelines stress the importance of multidisciplinary care, many did not have access to recommended health professionals, with only 3 % seeing a psychologist and 68 % seeing a dentist. This is despite the high psychological burden of XLH and a significant proportion (41 %) of this cohort having dental issues (tooth abscess, dental capping, tooth extraction). There were two cases from NZ without data available. Of the 91 cases with data collected, 46 % were on burosumab therapy. Consistent with clinical trials, those on burosumab had a higher serum phosphate levels (p < 0.001) at most recent follow-up. Three cases reported cancellation of orthopaedic surgery due to improvement in lower limb deformity after commencement of burosumab. Conclusion: These data describe the multisystem burden of disease for children with XLH with care impacted by delayed diagnosis and a lack of access to many health professionals, especially psychological support.
KW - Burosumab
KW - Paediatric
KW - Rickets
KW - X-linked hypophosphataemia
UR - http://www.scopus.com/inward/record.url?scp=85161335962&partnerID=8YFLogxK
U2 - 10.1016/j.bone.2023.116791
DO - 10.1016/j.bone.2023.116791
M3 - Article
C2 - 37263386
AN - SCOPUS:85161335962
SN - 8756-3282
VL - 173
JO - Bone
JF - Bone
M1 - 116791
ER -
