Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population.
Por:
Rodriguez-Rubio E, Gil-Pena H, Chocron S, Madariaga L, de la Cerda-Ojeda F, Fernandez-Fernandez M, de Lucas-Collantes C, Gil M, Luis-Yanes M, Vergara I, Gonzalez-Rodriguez J, Ferrando S, Anton-Gamero M, Carrasco Hidalgo-Barquero M, Fernandez-Escribano A, Fernandez-Maseda M, Espinosa L, Oliet A, Vicente A, Ariceta G, Santos F, RenalTubeGroup
Publicada:
27 feb 2021
Ahead of Print:
27 feb 2021
Resumen:
BACKGROUND: X-linked hypophosphatemia (XLH) is a hereditary rare disease
caused by loss-of-function mutations in PHEX gene leading
tohypophosphatemia and high renal loss of phosphate. Rickets and growth
retardation are the major manifestations of XLH in children, but there
is a broad phenotypic variability. Few publications have reported large
series of patients. Current data on the clinical spectrum of the
disease, the correlation with the underlying gene mutations, and the
long-term outcome of patients on conventional treatment are needed,
particularly because of the recent availability of new specific
medications to treat XLH.
RESULTS: The RenalTube database was used to retrospectively analyze 48
Spanish patients (15 men) from 39 different families, ranging from
3months to 8years and 2months of age at the time of diagnosis (median
age of 2.0years), and with XLH confirmed by genetic analysis. Bone
deformities, radiological signs of active rickets and growth retardation
were the most common findings at diagnosis. Mean (±SEM) height was -
1.89±0.19 SDS and 55% (22/40) of patients had height SDS below-2. All
cases had hypophosphatemia, serum phosphate being - 2.81±0.11 SDS.
Clinical manifestations and severity of the disease were similar in both
genders. No genotype-phenotype correlation was found. Conventional
treatment did not attenuate growth retardation after a median follow up
of 7.42years (IQR=11.26; n=26 patients) and failed to normalize serum
concentrations of phosphate. Eleven patients had mild
hyperparathyroidism and 8 patients nephrocalcinosis.
CONCLUSIONS: This study shows that growth retardation and rickets were
the most prevalent clinical manifestations at diagnosis in a large
series of Spanish pediatric patients with XLH confirmed by mutations in
the PHEX gene. Traditional treatment with phosphate and vitamin D
supplements did not improve height or corrected hypophosphatemia and was
associated with a risk of hyperparathyroidism and nephrocalcinosis. The
severity of the disease was similar in males and females.
Filiaciones:
Rodriguez-Rubio E:
RenalTubeGroup
Gil-Pena H:
RenalTubeGroup
Chocron S:
RenalTubeGroup
Madariaga L:
RenalTubeGroup
de la Cerda-Ojeda F:
RenalTubeGroup
Fernandez-Fernandez M:
RenalTubeGroup
de Lucas-Collantes C:
RenalTubeGroup
Gil M:
RenalTubeGroup
Luis-Yanes M:
RenalTubeGroup
Vergara I:
RenalTubeGroup
Gonzalez-Rodriguez J:
RenalTubeGroup
Ferrando S:
Servicio de Pediatría, Hospital Clínico Universitario de Valencia, Valencia, Spain
Anton-Gamero M:
RenalTubeGroup
Carrasco Hidalgo-Barquero M:
RenalTubeGroup
Fernandez-Escribano A:
RenalTubeGroup
Fernandez-Maseda M:
RenalTubeGroup
Espinosa L:
RenalTubeGroup
Oliet A:
RenalTubeGroup
Vicente A:
RenalTubeGroup
Ariceta G:
RenalTubeGroup
Santos F:
RenalTubeGroup
RenalTubeGroup:
RenalTubeGroup
Green Published, gold
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