X-linked hypophosphatemic rickets: an Italian experts' opinion survey

F Emma, M Cappa, F Antoniazzi, M L Bianchi, I Chiodini, C Eller Vainicher, N Di Iorgi, M Maghnie, A Cassio, A Balsamo, F Baronio, L de Sanctis, D Tessaris, G I Baroncelli, S Mora, M L Brandi, G Weber, A D'Ausilio, E P Lanati

Research output: Contribution to journalArticle

Abstract

BACKGROUND: X-linked hypophosphatemic rickets (XLH) is the first cause of inherited hypophosphatemia and is caused by mutation in the PHEX gene, resulting in excessive expression of the phosphaturic factor FGF23. Symptoms are mainly related to rickets in children and osteomalacia in adults and cause several complications that can be highly invalidating. Due to its rarity, XLH is poorly known and diagnosis is frequently delayed. Conventional treatment is based on oral phosphate salts supplementation and activated vitamin D analogs, which however, cannot cure the disease in most cases.

OBJECTIVE: Due to the low prevalence of XLH, an experts' opinion survey was conducted across Italian centers to collect data on XLH and on its management.

METHODS: A questionnaire was developed by a group of experts to collect data on XLH epidemiology, diagnosis and treatment in Italy.

RESULTS: Data from 10 Italian centers (nine of which pediatric) on 175 patients, followed between 1998 and 2017, were included in the survey. Most patients were followed since childhood and 63 children became adults during the investigated period. The diagnosis was made before the age of 1 and between 1 and 5 years in 11 and 50% of cases, respectively. Clinically apparent bone deformities were present in 95% of patients. These were ranked moderate/severe in 75% of subjects and caused growth stunting in 67% of patients. Other frequent complications included bone pain (40%), dental abscesses (33%), and dental malpositions (53%). Treatment protocols varied substantially among centers. Nephrocalcinosis was observed in 34% of patients. Tertiary hyperparathyroidism developed in 6% of patients.

CONCLUSIONS: XLH remains a severe condition with significant morbidities.

Original languageEnglish
Pages (from-to)67
JournalItalian Journal of Pediatrics
Volume45
Issue number1
DOIs
Publication statusPublished - May 31 2019

Fingerprint

Familial Hypophosphatemic Rickets
Expert Testimony
Tooth
Growth Disorders
Nephrocalcinosis
Hypophosphatemia
Bone and Bones
Osteomalacia
Rickets
Hyperparathyroidism
Clinical Protocols
Vitamin D
Abscess
Italy
Surveys and Questionnaires
Epidemiology
Salts
Phosphates
Pediatrics
Morbidity

Cite this

X-linked hypophosphatemic rickets : an Italian experts' opinion survey. / Emma, F; Cappa, M; Antoniazzi, F; Bianchi, M L; Chiodini, I; Eller Vainicher, C; Di Iorgi, N; Maghnie, M; Cassio, A; Balsamo, A; Baronio, F; de Sanctis, L; Tessaris, D; Baroncelli, G I; Mora, S; Brandi, M L; Weber, G; D'Ausilio, A; Lanati, E P.

In: Italian Journal of Pediatrics, Vol. 45, No. 1, 31.05.2019, p. 67.

Research output: Contribution to journalArticle

Emma, F ; Cappa, M ; Antoniazzi, F ; Bianchi, M L ; Chiodini, I ; Eller Vainicher, C ; Di Iorgi, N ; Maghnie, M ; Cassio, A ; Balsamo, A ; Baronio, F ; de Sanctis, L ; Tessaris, D ; Baroncelli, G I ; Mora, S ; Brandi, M L ; Weber, G ; D'Ausilio, A ; Lanati, E P. / X-linked hypophosphatemic rickets : an Italian experts' opinion survey. In: Italian Journal of Pediatrics. 2019 ; Vol. 45, No. 1. pp. 67.
@article{f21660d0e5524ba58ca17516b707ef6b,
title = "X-linked hypophosphatemic rickets: an Italian experts' opinion survey",
abstract = "BACKGROUND: X-linked hypophosphatemic rickets (XLH) is the first cause of inherited hypophosphatemia and is caused by mutation in the PHEX gene, resulting in excessive expression of the phosphaturic factor FGF23. Symptoms are mainly related to rickets in children and osteomalacia in adults and cause several complications that can be highly invalidating. Due to its rarity, XLH is poorly known and diagnosis is frequently delayed. Conventional treatment is based on oral phosphate salts supplementation and activated vitamin D analogs, which however, cannot cure the disease in most cases.OBJECTIVE: Due to the low prevalence of XLH, an experts' opinion survey was conducted across Italian centers to collect data on XLH and on its management.METHODS: A questionnaire was developed by a group of experts to collect data on XLH epidemiology, diagnosis and treatment in Italy.RESULTS: Data from 10 Italian centers (nine of which pediatric) on 175 patients, followed between 1998 and 2017, were included in the survey. Most patients were followed since childhood and 63 children became adults during the investigated period. The diagnosis was made before the age of 1 and between 1 and 5 years in 11 and 50{\%} of cases, respectively. Clinically apparent bone deformities were present in 95{\%} of patients. These were ranked moderate/severe in 75{\%} of subjects and caused growth stunting in 67{\%} of patients. Other frequent complications included bone pain (40{\%}), dental abscesses (33{\%}), and dental malpositions (53{\%}). Treatment protocols varied substantially among centers. Nephrocalcinosis was observed in 34{\%} of patients. Tertiary hyperparathyroidism developed in 6{\%} of patients.CONCLUSIONS: XLH remains a severe condition with significant morbidities.",
author = "F Emma and M Cappa and F Antoniazzi and Bianchi, {M L} and I Chiodini and {Eller Vainicher}, C and {Di Iorgi}, N and M Maghnie and A Cassio and A Balsamo and F Baronio and {de Sanctis}, L and D Tessaris and Baroncelli, {G I} and S Mora and Brandi, {M L} and G Weber and A D'Ausilio and Lanati, {E P}",
year = "2019",
month = "5",
day = "31",
doi = "10.1186/s13052-019-0654-6",
language = "English",
volume = "45",
pages = "67",
journal = "Italian Journal of Pediatrics",
issn = "1720-8424",
publisher = "BioMed Central Ltd.",
number = "1",

}

TY - JOUR

T1 - X-linked hypophosphatemic rickets

T2 - an Italian experts' opinion survey

AU - Emma, F

AU - Cappa, M

AU - Antoniazzi, F

AU - Bianchi, M L

AU - Chiodini, I

AU - Eller Vainicher, C

AU - Di Iorgi, N

AU - Maghnie, M

AU - Cassio, A

AU - Balsamo, A

AU - Baronio, F

AU - de Sanctis, L

AU - Tessaris, D

AU - Baroncelli, G I

AU - Mora, S

AU - Brandi, M L

AU - Weber, G

AU - D'Ausilio, A

AU - Lanati, E P

PY - 2019/5/31

Y1 - 2019/5/31

N2 - BACKGROUND: X-linked hypophosphatemic rickets (XLH) is the first cause of inherited hypophosphatemia and is caused by mutation in the PHEX gene, resulting in excessive expression of the phosphaturic factor FGF23. Symptoms are mainly related to rickets in children and osteomalacia in adults and cause several complications that can be highly invalidating. Due to its rarity, XLH is poorly known and diagnosis is frequently delayed. Conventional treatment is based on oral phosphate salts supplementation and activated vitamin D analogs, which however, cannot cure the disease in most cases.OBJECTIVE: Due to the low prevalence of XLH, an experts' opinion survey was conducted across Italian centers to collect data on XLH and on its management.METHODS: A questionnaire was developed by a group of experts to collect data on XLH epidemiology, diagnosis and treatment in Italy.RESULTS: Data from 10 Italian centers (nine of which pediatric) on 175 patients, followed between 1998 and 2017, were included in the survey. Most patients were followed since childhood and 63 children became adults during the investigated period. The diagnosis was made before the age of 1 and between 1 and 5 years in 11 and 50% of cases, respectively. Clinically apparent bone deformities were present in 95% of patients. These were ranked moderate/severe in 75% of subjects and caused growth stunting in 67% of patients. Other frequent complications included bone pain (40%), dental abscesses (33%), and dental malpositions (53%). Treatment protocols varied substantially among centers. Nephrocalcinosis was observed in 34% of patients. Tertiary hyperparathyroidism developed in 6% of patients.CONCLUSIONS: XLH remains a severe condition with significant morbidities.

AB - BACKGROUND: X-linked hypophosphatemic rickets (XLH) is the first cause of inherited hypophosphatemia and is caused by mutation in the PHEX gene, resulting in excessive expression of the phosphaturic factor FGF23. Symptoms are mainly related to rickets in children and osteomalacia in adults and cause several complications that can be highly invalidating. Due to its rarity, XLH is poorly known and diagnosis is frequently delayed. Conventional treatment is based on oral phosphate salts supplementation and activated vitamin D analogs, which however, cannot cure the disease in most cases.OBJECTIVE: Due to the low prevalence of XLH, an experts' opinion survey was conducted across Italian centers to collect data on XLH and on its management.METHODS: A questionnaire was developed by a group of experts to collect data on XLH epidemiology, diagnosis and treatment in Italy.RESULTS: Data from 10 Italian centers (nine of which pediatric) on 175 patients, followed between 1998 and 2017, were included in the survey. Most patients were followed since childhood and 63 children became adults during the investigated period. The diagnosis was made before the age of 1 and between 1 and 5 years in 11 and 50% of cases, respectively. Clinically apparent bone deformities were present in 95% of patients. These were ranked moderate/severe in 75% of subjects and caused growth stunting in 67% of patients. Other frequent complications included bone pain (40%), dental abscesses (33%), and dental malpositions (53%). Treatment protocols varied substantially among centers. Nephrocalcinosis was observed in 34% of patients. Tertiary hyperparathyroidism developed in 6% of patients.CONCLUSIONS: XLH remains a severe condition with significant morbidities.

U2 - 10.1186/s13052-019-0654-6

DO - 10.1186/s13052-019-0654-6

M3 - Article

C2 - 31151476

VL - 45

SP - 67

JO - Italian Journal of Pediatrics

JF - Italian Journal of Pediatrics

SN - 1720-8424

IS - 1

ER -