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[PMID]:28938491
[Au] Autor:Xiao L; Du E; Homer-Bouthiette C; Hurley MM
[Ad] Endereço:Department of Medicine, University of Connecticut School of Medicine, UConn Health, Farmington, Connecticut, 06030-052.
[Ti] Título:Inhibition of FGFR Signaling Partially Rescues Hypophosphatemic Rickets in HMWFGF2 Tg Male Mice.
[So] Source:Endocrinology;158(10):3629-3646, 2017 Oct 01.
[Is] ISSN:1945-7170
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Transgenic mice harboring high molecular weight fibroblast growth factor (FGF)2 isoforms (HMWTg) in osteoblast lineage cells phenocopy human X-linked hypophosphatemic rickets (XLH) and Hyp murine model of XLH demonstrating increased FGF23/FGF receptor signaling and hypophosphatemic rickets. Because HMWFGF2 was upregulated in bones of Hyp mice and abnormal FGF receptor (FGFR) signaling is important in XLH, HMWTg mice were used to examine the effect of the FGFR inhibitor NVP-BGJ398, now in clinical trials for cancer therapy, on hypophosphatemic rickets. Short-term treatment with NVP-BGJ398 rescued abnormal FGFR signaling and hypophosphatemia in HMWTg. Long-term treatment with NVP-BGJ398 normalized tail, tibia, and femur length. Four weeks NVP-BGJ398 treatment significantly increased total body bone mineral density (BMD) and bone mineral content (BMC) in HMWTg mice; however, at 8 weeks, total body BMD and BMC was indistinguishable among groups. Micro-computed tomography revealed decreased vertebral bone volume, trabecular number, and increased trabecular spacing, whereas femur trabecular tissue density was increased; however, NVP-BGJ398 rescued defective cortical bone mineralization, increased thickness, reduced porosity, and increased endosteal perimeter and cortical tissue density in HMWTg. NVP-BGJ398 improved femur cancellous bone, cortical bone structure, growth plate, and double labeling in cortical bone and also increased femur trabeculae double labeled surface, mineral apposition rate, bone formation rate, and osteoclast number and surface in HMWTg. The decreased NPT2a protein that is important for renal phosphate excretion was rescued by NVP-BGJ398 treatment. We conclude that NVP-BGJ398 partially rescued hypophosphatemic rickets in HMWTg. However, long-term treatment with NVP-BGJ398 further increased serum FGF23 that could exacerbate the mineralization defect.
[Mh] Termos MeSH primário: Densidade Óssea/efeitos dos fármacos
Osso e Ossos/efeitos dos fármacos
Raquitismo Hipofosfatêmico Familiar/genética
Fator 2 de Crescimento de Fibroblastos/genética
Osteoblastos/metabolismo
Compostos de Fenilureia/farmacologia
Pirimidinas/farmacologia
Receptores de Fatores de Crescimento de Fibroblastos/antagonistas & inibidores
[Mh] Termos MeSH secundário: Absorciometria de Fóton
Animais
Western Blotting
Osso e Ossos/diagnóstico por imagem
Osso e Ossos/patologia
Osso Esponjoso/diagnóstico por imagem
Osso Esponjoso/efeitos dos fármacos
Osso Esponjoso/patologia
Raquitismo Hipofosfatêmico Familiar/metabolismo
Raquitismo Hipofosfatêmico Familiar/patologia
Fêmur/diagnóstico por imagem
Fêmur/efeitos dos fármacos
Fêmur/patologia
Fatores de Crescimento de Fibroblastos/efeitos dos fármacos
Fatores de Crescimento de Fibroblastos/metabolismo
Seres Humanos
Masculino
Camundongos
Camundongos Transgênicos
Tamanho do Órgão
Isoformas de Proteínas/genética
Reação em Cadeia da Polimerase em Tempo Real
Reação em Cadeia da Polimerase Via Transcriptase Reversa
Transdução de Sinais/efeitos dos fármacos
Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIa/efeitos dos fármacos
Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIa/metabolismo
Coluna Vertebral/diagnóstico por imagem
Coluna Vertebral/efeitos dos fármacos
Coluna Vertebral/patologia
Microtomografia por Raio-X
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (3-(2,6-dichloro-3,5-dimethoxyphenyl)-1-(6-(4-(4-ethylpiperazin-1-yl)-phenylamino)pyrimidin-4-yl)-1-methylurea); 0 (Phenylurea Compounds); 0 (Protein Isoforms); 0 (Pyrimidines); 0 (Receptors, Fibroblast Growth Factor); 0 (Slc34a1 protein, mouse); 0 (Sodium-Phosphate Cotransporter Proteins, Type IIa); 0 (fibroblast growth factor 23); 103107-01-3 (Fibroblast Growth Factor 2); 62031-54-3 (Fibroblast Growth Factors)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171115
[Lr] Data última revisão:
171115
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170923
[St] Status:MEDLINE
[do] DOI:10.1210/en.2016-1617


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[PMID]:28506344
[Au] Autor:Ran Q; Xiong F; Zhu M; Deng LL; Lei PY; Luo YH; Zeng Y; Zhu GH; Song C
[Ad] Endereço:Department of Endocrinology, Children's Hospital of Chongqing Medical University, Chongqing 400014, China. xiongfengw@163.com.
[Ti] Título:[Novel PHEX gene mutations in patients with X-linked hypophosphatemic rickets: an analysis of 2 cases].
[So] Source:Zhongguo Dang Dai Er Ke Za Zhi;19(5):534-538, 2017 May.
[Is] ISSN:1008-8830
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVE: To investigate PHEX gene mutations in 2 patients with X-linked hypophosphatemic rickets (XLH) and their families and to clarify the genetic etiology. METHODS: A retrospective analysis was performed for the clinical data of two patients with XLH. High-throughput sequencing was used to detect the PHEX gene, a pathogenic gene of XLH. PCR-Sanger sequencing was used to verify the distribution of mutations in families. RESULTS: Both patients had novel mutations in the PHEX gene; one patient had a frameshift mutation, c.931dupC, which caused early termination of translation and produced the truncated protein p.Gln311Profs*13; the other patient had a splice site mutation, IVS14+1G>A, which caused the skipping of exon 15 and produced an incomplete amino acid chain. Their parents had normal gene phenotypes. CONCLUSIONS: c.931dupC and IVS14+1G>A are two novel mutations of the PHEX gene and might be the new pathogenic mutations of XLH.
[Mh] Termos MeSH primário: Raquitismo Hipofosfatêmico Familiar/genética
Mutação
Endopeptidase Neutra Reguladora de Fosfato PHEX/genética
[Mh] Termos MeSH secundário: Criança
Pré-Escolar
Feminino
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Masculino
Estudos Retrospectivos
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.4.24.- (PHEX Phosphate Regulating Neutral Endopeptidase); EC 3.4.24.- (PHEX protein, human)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170831
[Lr] Data última revisão:
170831
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170517
[St] Status:MEDLINE


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[PMID]:28397222
[Au] Autor:Li J; Xu P; Huang S; Gao M; Zou Y; Kang R; Gao Y
[Ad] Endereço:Center for Reproductive Medicine, Shandong University, National Research Center for Assisted Reproductive Technology and Reproductive Genetics, The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Jinan, Shandong 250000, China. gaoyuan@sduivf.com.
[Ti] Título:[Identification of a novel splicing mutation of PHEX gene in a pedigree affected with X-linked hypophosphatemia].
[So] Source:Zhonghua Yi Xue Yi Chuan Xue Za Zhi;34(2):216-219, 2017 Apr 10.
[Is] ISSN:1003-9406
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVE: To identify potential mutation of PHEX gene in two patients from a family affected with X-linked hypophosphatemia (XLH). METHODS: PCR and Sanger sequencing were performed on blood samples from the patients and 100 healthy controls. Reverse transcription-PCR (RT-PCR) was used to determine the mRNA expression in patient samples. RESULTS: A splicing site mutation, IVS21+2T>G, was found in the PHEX gene in both patients but not among the 100 healthy controls. RT-PCR confirmed that exon 21 of the PHEX gene was deleted. CONCLUSION: The novel splicing mutation IVS21+2T>G of the PHEX gene probably underlies the XLH in this pedigree. At the mRNA level, the mutation has led to removal of exon 21 and shift of the open reading frame (p.Val691fsx), resulting in premature termination of protein translation.
[Mh] Termos MeSH primário: Raquitismo Hipofosfatêmico Familiar/genética
Doenças Genéticas Ligadas ao Cromossomo X/genética
Endopeptidase Neutra Reguladora de Fosfato PHEX/genética
Processamento de RNA
[Mh] Termos MeSH secundário: Adulto
Sequência de Bases
Análise Mutacional de DNA
Éxons
Feminino
Seres Humanos
Masculino
Meia-Idade
Dados de Sequência Molecular
Mutação
Linhagem
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.4.24.- (PHEX Phosphate Regulating Neutral Endopeptidase); EC 3.4.24.- (PHEX protein, human)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170914
[Lr] Data última revisão:
170914
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170412
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.1003-9406.2017.02.014


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[PMID]:28301319
[Au] Autor:Andary R; El-Hage-Sleiman AK; Farhat T; Sanjad S; Nemer G
[Ad] Endereço:Department of Biochemistry and Molecular Genetics, American University of Beirut, Beirut.
[Ti] Título:Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes.
[So] Source:J Pediatr Endocrinol Metab;30(4):437-444, 2017 Apr 01.
[Is] ISSN:2191-0251
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disorder caused by mutations in the vitamin D receptor (VDR) gene. Variable phenotypes have been associated with these mutations, and some of these were linked to the effects they have on the interacting partners of VDR, mainly the retinoic X receptor (RXR). METHODS: We examined four patients with HVDRR from three unrelated Lebanese families. All parents were consanguineous with normal phenotype. We used Sanger sequencing to identify mutations in the coding exons of VDR. RESULTS: Two homozygous mutations (p.R391S and p.H397P), both in exon 9 of the VDR gene, were identified. Phenotype/genotype association was not possible even for the same mutation. Alopecia was seen only with the p.R391S mutation. Despite a comparable rachitic bone disease, the patients showed different responsiveness to large doses of alfacalcidol (1-α-hydroxy vitamin D3) supplementation. CONCLUSIONS: This is the first report of VDR mutations in Lebanon with promising clinical outcomes despite the severity of the phenotypes.
[Mh] Termos MeSH primário: Raquitismo Hipofosfatêmico Familiar/genética
Mutação/genética
Receptores de Calcitriol/genética
[Mh] Termos MeSH secundário: Pré-Escolar
Raquitismo Hipofosfatêmico Familiar/epidemiologia
Feminino
Seguimentos
Homozigoto
Seres Humanos
Lactente
Líbano/epidemiologia
Masculino
Linhagem
Fenótipo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Receptors, Calcitriol); 0 (VDR protein, human)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170912
[Lr] Data última revisão:
170912
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170317
[St] Status:MEDLINE


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[PMID]:28194480
[Au] Autor:Colares Neto GP; Pereira RM; Alvarenga JC; Takayama L; Funari MF; Martin RM
[Ad] Endereço:Osteometabolic Disorders Unit, Endocrinology Division, Hospital das Clínicas da Universidade de São Paulo, Av. Dr. Enéas de Carvalho Aguiar, 155 - PAMB, 8° andar, Bloco 3, São Paulo, SP, 05403-900, Brazil.
[Ti] Título:Evaluation of bone mineral density and microarchitectural parameters by DXA and HR-pQCT in 37 children and adults with X-linked hypophosphatemic rickets.
[So] Source:Osteoporos Int;28(5):1685-1692, 2017 May.
[Is] ISSN:1433-2965
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:In X-linked hypophosphatemic (XLH) rickets, dual-energy X-ray absorptiometry (DXA) measurements must be analyzed with caution. High-resolution peripheral quantitative computed tomography (HR-pQCT) analysis suggested that XLH primarily affects the cancellous compartment, with the tibia more affected than the radius. Effective treatment of XLH appears to positively affect bone mineralization, mainly in the bone cortex. INTRODUCTION: The purpose of this study is to evaluate bone mineral density (BMD) and microarchitecture in 37 patients (13 children and 24 adults) with XLH confirmed by PHEX mutations from a tertiary center compared to healthy controls. METHODS: Areal BMD (aBMD) was evaluated by DXA, whereas volumetric BMD (vBMD) and microarchitectural parameters were analyzed by HR-pQCT. RESULTS: Adult XLH patients had higher lumbar aBMD (p < 0.01) than the controls. At the radius, the vBMD was similar between XLH patients and controls. At the tibia, XLH patients had lower total vBMD (p = 0.04), likely resulting from decreased trabecular vBMD (p < 0.01), and this difference was observed in the children and adult groups. Analysis based on metabolic status showed that the adult XLH patients with non-compensated disease had lower cortical vBMD at the tibia than the compensated XLH patients (p = 0.03). The microarchitectural differences at the radius and tibia included lower trabecular number (p < 0.01), greater trabecular separation (p < 0.01), and higher trabecular network inhomogeneity (p < 0.01) in XLH patients compared to their controls. At the radius, adults exhibited greater trabecular deficits than were seen in children. CONCLUSIONS: In XLH patients, DXA measurements must be analyzed with caution due to the interference of anatomic and anthropometric factors. HR-pQCT analysis suggested that XLH primarily affects the cancellous compartment, with the tibia more affected than the radius. Effective treatment of XLH appears to positively affect bone mineralization, mainly in the bone cortex.
[Mh] Termos MeSH primário: Densidade Óssea/fisiologia
Raquitismo Hipofosfatêmico Familiar/fisiopatologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Fatores Etários
Idoso
Criança
Raquitismo Hipofosfatêmico Familiar/diagnóstico por imagem
Raquitismo Hipofosfatêmico Familiar/patologia
Feminino
Seres Humanos
Vértebras Lombares/diagnóstico por imagem
Vértebras Lombares/patologia
Vértebras Lombares/fisiopatologia
Masculino
Meia-Idade
Rádio (Anatomia)/diagnóstico por imagem
Rádio (Anatomia)/patologia
Rádio (Anatomia)/fisiopatologia
Tíbia/diagnóstico por imagem
Tíbia/patologia
Tíbia/fisiopatologia
Tomografia Computadorizada por Raios X/métodos
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171016
[Lr] Data última revisão:
171016
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170215
[St] Status:MEDLINE
[do] DOI:10.1007/s00198-017-3949-8


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[PMID]:28130634
[Au] Autor:Fuente R; Gil-Peña H; Claramunt-Taberner D; Hernández O; Fernández-Iglesias A; Alonso-Durán L; Rodríguez-Rubio E; Santos F
[Ad] Endereço:Division of Pediatrics, Department of Medicine. Faculty of Medicine, University of Oviedo, Oviedo, Asturias, Spain.
[Ti] Título:X-linked hypophosphatemia and growth.
[So] Source:Rev Endocr Metab Disord;18(1):107-115, 2017 Mar.
[Is] ISSN:1573-2606
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:X-Linked hypophosphatemia (XLH) is the most common form of hereditary rickets caused by loss-of function mutations in the PHEX gene. XLH is characterized by hypophosphatemia secondary to renal phosphate wasting, inappropriately low concentrations of 1,25 dihydroxyvitamin D and high circulating levels of fibroblast growth factor 23 (FGF23). Short stature and rachitic osseous lesions are characteristic phenotypic findings of XLH although the severity of these manifestations is highly variable among patients. The degree of growth impairment is not dependent on the magnitude of hypophosphatemia or the extent of legs´ bowing and height is not normalized by chronic administration of phosphate supplements and 1α hydroxyvitamin D derivatives. Treatment with growth hormone accelerates longitudinal growth rate but there is still controversy regarding the potential risk of increasing bone deformities and body disproportion. Treatments aimed at blocking FGF23 action are promising, but information is lacking on the consequences of counteracting FGF23 during the growing period. This review summarizes current knowledge on phosphorus metabolism in XLH, presents updated information on XLH and growth, including the effects of FGF23 on epiphyseal growth plate of the Hyp mouse, an animal model of the disease, and discusses growth hormone and novel FGF23 related therapies.
[Mh] Termos MeSH primário: Raquitismo Hipofosfatêmico Familiar/metabolismo
Fatores de Crescimento de Fibroblastos/metabolismo
Transtornos do Crescimento/metabolismo
[Mh] Termos MeSH secundário: Animais
Raquitismo Hipofosfatêmico Familiar/complicações
Transtornos do Crescimento/tratamento farmacológico
Transtornos do Crescimento/etiologia
Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (fibroblast growth factor 23); 62031-54-3 (Fibroblast Growth Factors)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:171101
[Lr] Data última revisão:
171101
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170129
[St] Status:MEDLINE
[do] DOI:10.1007/s11154-017-9408-1


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[PMID]:28025445
[Au] Autor:Nakamura Y; Takagi M; Takeda R; Miyai K; Hasegawa Y
[Ad] Endereço:Division of Genetic Research, Tokyo Metropolitan Children's Medical Center, Tokyo 183-8561, Japan.
[Ti] Título:Hypertension is a characteristic complication of X-linked hypophosphatemia.
[So] Source:Endocr J;64(3):283-289, 2017 Mar 31.
[Is] ISSN:1348-4540
[Cp] País de publicação:Japan
[La] Idioma:eng
[Ab] Resumo:X-linked hypophosphatemia (XLH) is a group of rare disorders caused by defective proximal tubular reabsorption of phosphate. Mutations in the PHEX gene are responsible for the majority of cases. There are very few reports of long-term complications of XLH other than skeletal and dental diseases. The aim of this study was to identify the phenotypic presentation of XLH during adulthood including complications other than skeletal and dental diseases. The clinical and biochemical phenotype of 22 adult patients with a PHEX gene mutation were examined retrospectively from their medical records. 6 patients had hypertension. The average age of hypertension onset was 29.0 years. Secondary hyperparathyroidism preceded the development of hypertension in 5 patients. 1 patient developed tertiary hyperparathyroidism. 15 patients had nephrocalcinosis. 2 patients had chronic renal dysfunction. Patients with hypertension had a significantly lower eGFR (p=0.010) compared to patients without hypertension. No significant difference was found in any other parameters. To examine the genotype-phenotype correlation, 10 adult males were chosen for analysis. No significant genotype-phenotype correlation analysis was revealed in any of the complications. However, there was a possibility that the age at nephrocalcinosis onset was younger in the non-missense mutation group than in the missense mutation group (p=0.063). This study corroborated the view that early-onset hypertension could be one of the characteristic complications seen in XLH patients. Considering the limited number of our patients, further study is necessary to address a potential cause of hypertension. XLH patients require careful lifelong treatment.
[Mh] Termos MeSH primário: Raquitismo Hipofosfatêmico Familiar/fisiopatologia
Hiperparatireoidismo Secundário/etiologia
Hipertensão/etiologia
Nefrocalcinose/etiologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idade de Início
Conservadores da Densidade Óssea/uso terapêutico
Criança
Pré-Escolar
Suplementos Nutricionais
Raquitismo Hipofosfatêmico Familiar/dietoterapia
Raquitismo Hipofosfatêmico Familiar/genética
Feminino
Hospitais Pediátricos
Seres Humanos
Hidroxicolecalciferóis/uso terapêutico
Hiperparatireoidismo Secundário/epidemiologia
Hiperparatireoidismo Secundário/prevenção & controle
Hipertensão/epidemiologia
Hipertensão/prevenção & controle
Masculino
Registros Médicos
Mutação
Nefrocalcinose/epidemiologia
Nefrocalcinose/prevenção & controle
Endopeptidase Neutra Reguladora de Fosfato PHEX/genética
Fosfatos/uso terapêutico
Prevalência
Estudos Retrospectivos
Tóquio/epidemiologia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Bone Density Conservation Agents); 0 (Hydroxycholecalciferols); 0 (Phosphates); EC 3.4.24.- (PHEX Phosphate Regulating Neutral Endopeptidase); EC 3.4.24.- (PHEX protein, human); URQ2517572 (alfacalcidol)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171003
[Lr] Data última revisão:
171003
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161228
[St] Status:MEDLINE
[do] DOI:10.1507/endocrj.EJ16-0199


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[PMID]:28013309
[Au] Autor:Ben Ameur S; Silve C; Chabchoub I; Damak F; Kamoun F; Toussaint A; Kmiha S; Sfaihi L; Maaloul I; Kamoun T; Aloulou H; Hachicha M
[Ad] Endereço:Pediatric Department, Hedi Chaker Hospital, Sfax, Tunisia.
[Ti] Título:Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets.
[So] Source:Horm Res Paediatr;87(1):23-29, 2017.
[Is] ISSN:1663-2826
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disorder characterized by the early onset of rickets and is caused by mutations in the vitamin D receptor (VDR) gene. Some HVDRR patients also have alopecia. PATIENTS AND METHODS: We retrospectively studied the clinical features, laboratory findings, genetic defects, as well as responses to treatment in a series of children with HVDRR. RESULTS: Eight patients from 7 families met the inclusion criteria. Alopecia was noted in 7 patients. Two different homozygous mutations in the VDR gene were identified in 6 patients: the p.K45E mutation located in the DNA-binding domain (5 patients with alopecia) and a novel p.T415R mutation located in the ligand-binding domain. A p.E143del CYP24A1 mutation, in the gene encoding the 25-hydroxyvitamin D3-24-hydroxylase, was identified in 2 brothers carrying the VDR gene mutation p.K45E. Six patients were treated with intermittent intravenous calcium treatment via the peripheral route with a clear improvement in 5 cases. CONCLUSION: To the best of our knowledge, this is the first major series reporting on HVDRR in Tunisia. The same mutation (p.K45E) was found in 5 apparently unrelated affected individuals. We have also extended the mutation spectrum by studying 1 novel VDR mutation.
[Mh] Termos MeSH primário: Raquitismo Hipofosfatêmico Familiar
Mutação de Sentido Incorreto
Receptores de Calcitriol/genética
[Mh] Termos MeSH secundário: Substituição de Aminoácidos
Pré-Escolar
Raquitismo Hipofosfatêmico Familiar/sangue
Raquitismo Hipofosfatêmico Familiar/genética
Feminino
Seres Humanos
Lactente
Masculino
Tunísia
[Pt] Tipo de publicação:CLINICAL TRIAL; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Receptors, Calcitriol)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170428
[Lr] Data última revisão:
170428
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161226
[St] Status:MEDLINE
[do] DOI:10.1159/000452886


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[PMID]:28005411
[Au] Autor:Ichikawa S; Gerard-O'Riley RL; Acton D; McQueen AK; Strobel IE; Witcher PC; Feng JQ; Econs MJ
[Ad] Endereço:Department of Medicine, Indiana University School of Medicine, 1120 West Michigan St, CL459, Indianapolis, IN, USA.
[Ti] Título:A Mutation in the Dmp1 Gene Alters Phosphate Responsiveness in Mice.
[So] Source:Endocrinology;158(3):470-476, 2017 03 01.
[Is] ISSN:1945-7170
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Mutations in the dentin matrix protein 1 (DMP1) gene cause autosomal recessive hypophosphatemic rickets (ARHR). Hypophosphatemia in ARHR results from increased circulating levels of the phosphaturic hormone, fibroblast growth factor 23 (FGF23). Similarly, elevated FGF23, caused by mutations in the PHEX gene, is responsible for the hypophosphatemia in X-linked hypophosphatemic rickets (XLH). Previously, we demonstrated that a Phex mutation in mice creates a lower set point for extracellular phosphate, where an increment in phosphorus further stimulates Fgf23 production to maintain low serum phosphorus levels. To test the presence of the similar set point defect in ARHR, we generated 4- and 12-week-old Dmp1/Galnt3 double knockout mice and controls, including Dmp1 knockout mice (a murine model of ARHR), Galnt3 knockout mice (a murine model of familial tumoral calcinosis), and phenotypically normal double heterozygous mice. Galnt3 knockout mice had increased proteolytic cleavage of Fgf23, leading to low circulating intact Fgf23 levels with consequent hyperphosphatemia. In contrast, Dmp1 knockout mice had little Fgf23 cleavage and increased femoral Fgf23 expression, resulting in hypophosphatemia and low femoral bone mineral density (BMD). However, introduction of the Galnt3 null allele to Dmp1 knockout mice resulted in a significant increase in serum phosphorus and normalization of BMD. This increased serum phosphorus was accompanied by markedly elevated Fgf23 expression and circulating Fgf23 levels, an attempt to reduce serum phosphorus in the face of improving phosphorus levels. These data indicate that a Dmp1 mutation creates a lower set point for extracellular phosphate and maintains it through the regulation of Fgf23 cleavage and expression.
[Mh] Termos MeSH primário: Líquido Extracelular/metabolismo
Proteínas da Matriz Extracelular/genética
Raquitismo Hipofosfatêmico Familiar/genética
Fatores de Crescimento de Fibroblastos/metabolismo
Fosfatos/metabolismo
[Mh] Termos MeSH secundário: Animais
Densidade Óssea
Raquitismo Hipofosfatêmico Familiar/sangue
Feminino
Fêmur/crescimento & desenvolvimento
Masculino
Camundongos
Camundongos Knockout
Mutação
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Dmp1 protein, mouse); 0 (Extracellular Matrix Proteins); 0 (Phosphates); 0 (fibroblast growth factor 23); 62031-54-3 (Fibroblast Growth Factors)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170719
[Lr] Data última revisão:
170719
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:161223
[St] Status:MEDLINE
[do] DOI:10.1210/en.2016-1642


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[PMID]:27821544
[Au] Autor:Biosse Duplan M; Coyac BR; Bardet C; Zadikian C; Rothenbuhler A; Kamenicky P; Briot K; Linglart A; Chaussain C
[Ad] Endereço:1 Service d'Odontologie, Hôpital Bretonneau, HUPNVS, AP-HP, Paris, France.
[Ti] Título:Phosphate and Vitamin D Prevent Periodontitis in X-Linked Hypophosphatemia.
[So] Source:J Dent Res;96(4):388-395, 2017 Apr.
[Is] ISSN:1544-0591
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:X-linked hypophosphatemia (XLH) is a rare genetic skeletal disease where increased phosphate wasting in the kidney leads to hypophosphatemia and prevents normal mineralization of bone and dentin. Here, we examined the periodontal status of 34 adults with XLH and separated them according to the treatment they received for hypophosphatemia. We observed that periodontitis frequency and severity were increased in adults with XLH and that the severity varied according to the hypophosphatemia treatment. Patients who benefited from an early and continuous vitamin D and phosphate supplementation during their childhood presented less periodontal attachment loss than patients with late or incomplete supplementation. Continued hypophosphatemia treatment during adulthood further improved the periodontal health. Extracted teeth from patients with late or incomplete supplementation showed a strong acellular cementum hypoplasia when compared with age-matched healthy controls. These results show that XLH disturbs not only bone and dentin formation but also cementum and that the constitutional defect of the attachment apparatus is associated with attachment loss.
[Mh] Termos MeSH primário: Raquitismo Hipofosfatêmico Familiar/complicações
Raquitismo Hipofosfatêmico Familiar/tratamento farmacológico
Periodontite/prevenção & controle
Fosfatos/uso terapêutico
Vitamina D/uso terapêutico
[Mh] Termos MeSH secundário: Adulto
Estudos de Casos e Controles
Raquitismo Hipofosfatêmico Familiar/diagnóstico por imagem
Feminino
Seres Humanos
Imuno-Histoquímica
Masculino
Meia-Idade
Periodontite/diagnóstico por imagem
Estudos Prospectivos
Radiografia Panorâmica
Resultado do Tratamento
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Phosphates); 1406-16-2 (Vitamin D)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170531
[Lr] Data última revisão:
170531
[Sb] Subgrupo de revista:D; IM
[Da] Data de entrada para processamento:161109
[St] Status:MEDLINE
[do] DOI:10.1177/0022034516677528



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