Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia

Zhang, Cong; Zhao, Zhen; Sun, Yan; Xu, Li; Jiajue, Ruizhi; Cui, Lijia; Pang, Qi; Jiang, Yan; Li, Mei; Wang, Ou; He, Xiaoli; He, Song; Nie, Min; Xing, Xiaoping; Meng, Xunwu; Zhou, Xingtong; Yan, Lingling; Kaplan, Jared; Insogna, Karl; Xia, Weibo

doi:10.1016/j.bone.2019.01.021

Cited by 64 publications

(94 citation statements)

References 42 publications

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“…The severity of the disease was similar in males and females. Background X-linked hypophosphatemic rickets (XLH) (OMIM 307800) is the most common hereditary rickets (1)(2)(3)(4)(5) with an estimated prevalence of 1:20,000 (6,7). It follows a dominant transmission (8).…”

Section: Discussionmentioning

confidence: 99%

Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population.

Rodríguez-Rubio

Gil‐Peña

Chocrón³

et al. 2020

Preprint

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BACKGROUNDX-Linked hypophosphatemia (XLH) is a hereditary rare disease caused by loss-of-function mutations in PHEX gene leading to hypophosphatemia 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. RESULTSThe RenalTube database was used to retrospectively analyze 48 Spanish patients (15 men) from 39 different families, ranging from 0 to 9 years of age at the time of diagnosis, 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% 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 7.42 years (IQR = 11.26; n=26 patients) and failed to normalize serum concentrations of phosphate. Eleven patients had mild hyperparathyroidism and 8 patients nephrocalcinosis. CONCLUSIONSThis 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.

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Section: Discussionmentioning

confidence: 99%

Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population.

Rodríguez-Rubio

Gil‐Peña

Chocrón³

et al. 2020

Preprint

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“…The sister, mother, and grandmother of the patient in the present report did not have scaphocephaly. In a large case series, gender differences in the disease severity of XLH were not observed 7,11 ; however, the severity and clinical manifestations of XLH patients varied markedly within the same family 12 . Among the family members tested, only the boy presented with sagittal synostosis and a mild Chiari malformation.…”

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confidence: 87%

“…In accordance with the present results, splice-site mutations have been shown to be responsible for 17% of all reported PHEX mutations 5 . Other mutations have also been reported in the splice acceptor site of intron 17 2,6,7 . Hue Yue et al described a case of a 16-year-old boy with a PHEX gene mutation in the splice acceptor site of intron 17 (c.1768 + 2 T > G).…”

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confidence: 94%

Phenotypes of a family with XLH with a novel PHEX mutation

et al. 2020

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X-linked hypophosphatemia (XLH) is the most common form of heritable hypophosphatemic rickets. We encountered a 4-year-old boy with a novel variant in the phosphate-regulating neutral endopeptidase homolog X-linked (PHEX) gene who presented with a short stature, genu valgum, and scaphocephaly. The same mutation was identified in his mother and sister; however, the patient presented with a more severe case.

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“…Редки болести и лекарства сираци 2019;10(1):26-30 Zhang и съавт. [18] описват кохорта от 261 китайски пациенти с XLH, като изследват клиничните и генетични параметри на тази етническа група. Aсar и съавт.…”

Section: резултати и обсъжданеunclassified

Епидемиология На Х-Свързаната Хипофосфатемия

Митова¹,

Искров²

2019

Редки болести и лекарства сираци

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Х-свързаната хипофосфатемия (X-linked hypophosphatemia, XLH) е наследствено заболяване, характеризиращо се с повишена загуба на фосфати през бъбреците, което води до прояви на рахит, костни деформации и изоставане в растежа. XLH се унаследява доминантно, засяга и двата пола и съставлява 80% от фамилните хипофосфатемии. Заболяването се проявява най-често в първите две години от живота, като може да варира по тежест и има случаи на диагностициране едва в юношеската и зряла възраст. Ранната диагноза и своевременното лечение на XLH са от решаващо значение за постигане на по-добри резултати като по-малко костни деформации, подобрен растеж и по-добро дентално здраве, а от там и подобрено качество на живот. Изучаването на епидемиологията на XLH е затруднено поради малкия брой проучвания в тази насока. В последните няколко години доказването на диагнозата става възможно и чрез молекулярни генетични тестове, които са включени в някои изследвания на пациенти с това заболяване. Настоящата публикация има за цел да анализира епидемиологични данни за XLH и да предостави оценка за разпространението на това заболяване в България.

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Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia

Cited by 64 publications

References 42 publications

Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population.

Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population.

Phenotypes of a family with XLH with a novel PHEX mutation

Епидемиология На Х-Свързаната Хипофосфатемия

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