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[PMID]: 28938491
[Au] Autor:Xiao L; Du E; Homer-Bouthiette C; Hurley MM
[Ad] Address:Department of Medicine, University of Connecticut School of Medicine, UConn Health, Farmington, Connecticut, 06030-052.
[Ti] Title: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] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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] MeSH terms primary: Bone Density/drug effects
Bone and Bones/drug effects
Familial Hypophosphatemic Rickets/genetics
Fibroblast Growth Factor 2/genetics
Osteoblasts/metabolism
Phenylurea Compounds/pharmacology
Pyrimidines/pharmacology
Receptors, Fibroblast Growth Factor/antagonists & inhibitors
[Mh] MeSH terms secundary: Absorptiometry, Photon
Animals
Blotting, Western
Bone and Bones/diagnostic imaging
Bone and Bones/pathology
Cancellous Bone/diagnostic imaging
Cancellous Bone/drug effects
Cancellous Bone/pathology
Familial Hypophosphatemic Rickets/metabolism
Familial Hypophosphatemic Rickets/pathology
Femur/diagnostic imaging
Femur/drug effects
Femur/pathology
Fibroblast Growth Factors/drug effects
Fibroblast Growth Factors/metabolism
Humans
Male
Mice
Mice, Transgenic
Organ Size
Protein Isoforms/genetics
Real-Time Polymerase Chain Reaction
Reverse Transcriptase Polymerase Chain Reaction
Signal Transduction/drug effects
Sodium-Phosphate Cotransporter Proteins, Type IIa/drug effects
Sodium-Phosphate Cotransporter Proteins, Type IIa/metabolism
Spine/diagnostic imaging
Spine/drug effects
Spine/pathology
X-Ray Microtomography
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance: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] Entry month:1710
[Cu] Class update date: 171115
[Lr] Last revision date:171115
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:170923
[St] Status:MEDLINE
[do] DOI:10.1210/en.2016-1617

  2 / 809 MEDLINE  
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[PMID]: 28914984
[Au] Autor:Stokes VJ; Nielsen MF; Hannan FM; Thakker RV
[Ad] Address:Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
[Ti] Title:Hypercalcemic Disorders in Children.
[So] Source:J Bone Miner Res;32(11):2157-2170, 2017 Nov.
[Is] ISSN:1523-4681
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Hypercalcemia is defined as a serum calcium concentration that is greater than two standard deviations above the normal mean, which in children may vary with age and sex, reflecting changes in the normal physiology at each developmental stage. Hypercalcemic disorders in children may present with hypotonia, poor feeding, vomiting, constipation, abdominal pain, lethargy, polyuria, dehydration, failure to thrive, and seizures. In severe cases renal failure, pancreatitis and reduced consciousness may also occur and older children and adolescents may present with psychiatric symptoms. The causes of hypercalcemia in children can be classified as parathyroid hormone (PTH)-dependent or PTH-independent, and may be congenital or acquired. PTH-independent hypercalcemia, ie, hypercalcemia associated with a suppressed PTH, is commoner in children than PTH-dependent hypercalcemia. Acquired causes of PTH-independent hypercalcemia in children include hypervitaminosis; granulomatous disorders, and endocrinopathies. Congenital syndromes associated with PTH-independent hypercalcemia include idiopathic infantile hypercalcemia (IIH), William's syndrome, and inborn errors of metabolism. PTH-dependent hypercalcemia is usually caused by parathyroid tumors, which may give rise to primary hyperparathyroidism (PHPT) or tertiary hyperparathyroidism, which usually arises in association with chronic renal failure and in the treatment of hypophosphatemic rickets. Acquired causes of PTH-dependent hypercalcemia in neonates include maternal hypocalcemia and extracorporeal membrane oxygenation. PHPT usually occurs as an isolated nonsyndromic and nonhereditary endocrinopathy, but may also occur as a hereditary hypercalcemic disorder such as familial hypocalciuric hypercalcemia, neonatal severe primary hyperparathyroidism, and familial isolated primary hyperparathyroidism, and less commonly, as part of inherited complex syndromic disorders such as multiple endocrine neoplasia (MEN). Advances in identifying the genetic causes have resulted in increased understanding of the underlying biological pathways and improvements in diagnosis. The management of symptomatic hypercalcemia includes interventions such as fluids, antiresorptive medications, and parathyroid surgery. This article presents a clinical, biochemical, and genetic approach to investigating the causes of pediatric hypercalcemia. © 2017 American Society for Bone and Mineral Research.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1709
[Cu] Class update date: 171114
[Lr] Last revision date:171114
[St] Status:In-Process
[do] DOI:10.1002/jbmr.3296

  3 / 809 MEDLINE  
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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] Address:Department of Endocrinology, Children's Hospital of Chongqing Medical University, Chongqing 400014, China. xiongfengw@163.com.
[Ti] Title:[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] Country of publication:China
[La] Language:chi
[Ab] Abstract: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] MeSH terms primary: Familial Hypophosphatemic Rickets/genetics
Mutation
PHEX Phosphate Regulating Neutral Endopeptidase/genetics
[Mh] MeSH terms secundary: Child
Child, Preschool
Female
High-Throughput Nucleotide Sequencing
Humans
Male
Retrospective Studies
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:EC 3.4.24.- (PHEX Phosphate Regulating Neutral Endopeptidase); EC 3.4.24.- (PHEX protein, human)
[Em] Entry month:1708
[Cu] Class update date: 170831
[Lr] Last revision date:170831
[Js] Journal subset:IM
[Da] Date of entry for processing:170517
[St] Status:MEDLINE

  4 / 809 MEDLINE  
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[PMID]: 28501532
[Au] Autor:Fakhar M; Rashid S
[Ad] Address:National Center for Bioinformatics, Quaid-i-Azam University, Islamabad, Pakistan.
[Ti] Title:Targeted inhibition of Klotho binding to fibroblast growth factor 23 prevents hypophosphetemia.
[So] Source:J Mol Graph Model;75:9-19, 2017 Aug.
[Is] ISSN:1873-4243
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Klotho is a transmembrane protein which plays significant role in the pathogenesis of phosphate ion (Pi)-related disorders. Pi accumulation in human kidney tissues results in the major metabolic disorders due to malfunctioning of Klotho-FGFR1-FGF23 trimeric complex. The potential role of Klotho in Pi metabolism was elaborated through modeling and interaction analysis of glycosyl hydrolase (GS1 and GS2) domains with Fibroblast growth factor 23 (FGF23). In order to inhibit the association of Klotho and FGF23, binding patterns of three reported hits (N-(2-chlorophenyl)-1H-indole-3-carboxamide, N-[2-(1-cyclohexen-1-yl)ethyl]-6,7,8,9-tetrahydropyrido[1,2-e]purin-4-amine and 2-(1-propyl)amino-11-chlorothiazolo[5,4-a]acridine) were evaluated through molecular docking analysis. These inhibitors effectively targeted both GS1 and GS2 domains of Klotho at the similar sites required for FGF23 binding. To further characterize the comparative binding profile of these compounds, molecular dynamics simulation assays were performed. Taken together, current study emphasizes that Klotho may be anticipated as a target molecule in familial hypophosphatemic rickets and mentioned compounds may prove to be effective therapeutic targets against hypophosphetemia induced disorders.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1705
[Cu] Class update date: 170718
[Lr] Last revision date:170718
[St] Status:In-Process

  5 / 809 MEDLINE  
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[PMID]: 28397222
[Au] Autor:Li J; Xu P; Huang S; Gao M; Zou Y; Kang R; Gao Y
[Ad] Address: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] Title:[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] Country of publication:China
[La] Language:chi
[Ab] Abstract: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] MeSH terms primary: Familial Hypophosphatemic Rickets/genetics
Genetic Diseases, X-Linked/genetics
PHEX Phosphate Regulating Neutral Endopeptidase/genetics
RNA Splicing
[Mh] MeSH terms secundary: Adult
Base Sequence
DNA Mutational Analysis
Exons
Female
Humans
Male
Middle Aged
Molecular Sequence Data
Mutation
Pedigree
Young Adult
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:EC 3.4.24.- (PHEX Phosphate Regulating Neutral Endopeptidase); EC 3.4.24.- (PHEX protein, human)
[Em] Entry month:1709
[Cu] Class update date: 170914
[Lr] Last revision date:170914
[Js] Journal subset:IM
[Da] Date of entry for processing:170412
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.1003-9406.2017.02.014

  6 / 809 MEDLINE  
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[PMID]: 28301319
[Au] Autor:Andary R; El-Hage-Sleiman AK; Farhat T; Sanjad S; Nemer G
[Ad] Address:Department of Biochemistry and Molecular Genetics, American University of Beirut, Beirut.
[Ti] Title: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] Country of publication:Germany
[La] Language:eng
[Ab] Abstract: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] MeSH terms primary: Familial Hypophosphatemic Rickets/genetics
Mutation/genetics
Receptors, Calcitriol/genetics
[Mh] MeSH terms secundary: Child, Preschool
Familial Hypophosphatemic Rickets/epidemiology
Female
Follow-Up Studies
Homozygote
Humans
Infant
Lebanon/epidemiology
Male
Pedigree
Phenotype
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Receptors, Calcitriol); 0 (VDR protein, human)
[Em] Entry month:1709
[Cu] Class update date: 170912
[Lr] Last revision date:170912
[Js] Journal subset:IM
[Da] Date of entry for processing:170317
[St] Status:MEDLINE

  7 / 809 MEDLINE  
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[PMID]: 28194480
[Au] Autor:Colares Neto GP; Pereira RM; Alvarenga JC; Takayama L; Funari MF; Martin RM
[Ad] Address: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] Title: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] Country of publication:England
[La] Language:eng
[Ab] Abstract: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] MeSH terms primary: Bone Density/physiology
Familial Hypophosphatemic Rickets/physiopathology
[Mh] MeSH terms secundary: Adolescent
Adult
Age Factors
Aged
Child
Familial Hypophosphatemic Rickets/diagnostic imaging
Familial Hypophosphatemic Rickets/pathology
Female
Humans
Lumbar Vertebrae/diagnostic imaging
Lumbar Vertebrae/pathology
Lumbar Vertebrae/physiopathology
Male
Middle Aged
Radius/diagnostic imaging
Radius/pathology
Radius/physiopathology
Tibia/diagnostic imaging
Tibia/pathology
Tibia/physiopathology
Tomography, X-Ray Computed/methods
Young Adult
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171016
[Lr] Last revision date:171016
[Js] Journal subset:IM
[Da] Date of entry for processing:170215
[St] Status:MEDLINE
[do] DOI:10.1007/s00198-017-3949-8

  8 / 809 MEDLINE  
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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] Address:Division of Pediatrics, Department of Medicine. Faculty of Medicine, University of Oviedo, Oviedo, Asturias, Spain.
[Ti] Title:X-linked hypophosphatemia and growth.
[So] Source:Rev Endocr Metab Disord;18(1):107-115, 2017 Mar.
[Is] ISSN:1573-2606
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract: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] MeSH terms primary: Familial Hypophosphatemic Rickets/metabolism
Fibroblast Growth Factors/metabolism
Growth Disorders/metabolism
[Mh] MeSH terms secundary: Animals
Familial Hypophosphatemic Rickets/complications
Growth Disorders/drug therapy
Growth Disorders/etiology
Humans
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Nm] Name of substance:0 (fibroblast growth factor 23); 62031-54-3 (Fibroblast Growth Factors)
[Em] Entry month:1705
[Cu] Class update date: 171101
[Lr] Last revision date:171101
[Js] Journal subset:IM
[Da] Date of entry for processing:170129
[St] Status:MEDLINE
[do] DOI:10.1007/s11154-017-9408-1

  9 / 809 MEDLINE  
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[PMID]: 28025445
[Au] Autor:Nakamura Y; Takagi M; Takeda R; Miyai K; Hasegawa Y
[Ad] Address:Division of Genetic Research, Tokyo Metropolitan Children's Medical Center, Tokyo 183-8561, Japan.
[Ti] Title: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] Country of publication:Japan
[La] Language:eng
[Ab] Abstract: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] MeSH terms primary: Familial Hypophosphatemic Rickets/physiopathology
Hyperparathyroidism, Secondary/etiology
Hypertension/etiology
Nephrocalcinosis/etiology
[Mh] MeSH terms secundary: Adolescent
Adult
Age of Onset
Bone Density Conservation Agents/therapeutic use
Child
Child, Preschool
Dietary Supplements
Familial Hypophosphatemic Rickets/diet therapy
Familial Hypophosphatemic Rickets/genetics
Female
Hospitals, Pediatric
Humans
Hydroxycholecalciferols/therapeutic use
Hyperparathyroidism, Secondary/epidemiology
Hyperparathyroidism, Secondary/prevention & control
Hypertension/epidemiology
Hypertension/prevention & control
Male
Medical Records
Mutation
Nephrocalcinosis/epidemiology
Nephrocalcinosis/prevention & control
PHEX Phosphate Regulating Neutral Endopeptidase/genetics
Phosphates/therapeutic use
Prevalence
Retrospective Studies
Tokyo/epidemiology
Young Adult
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance: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] Entry month:1710
[Cu] Class update date: 171003
[Lr] Last revision date:171003
[Js] Journal subset:IM
[Da] Date of entry for processing:161228
[St] Status:MEDLINE
[do] DOI:10.1507/endocrj.EJ16-0199

  10 / 809 MEDLINE  
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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] Address:Pediatric Department, Hedi Chaker Hospital, Sfax, Tunisia.
[Ti] Title: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] Country of publication:Switzerland
[La] Language:eng
[Ab] Abstract: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] MeSH terms primary: Familial Hypophosphatemic Rickets
Mutation, Missense
Receptors, Calcitriol/genetics
[Mh] MeSH terms secundary: Amino Acid Substitution
Child, Preschool
Familial Hypophosphatemic Rickets/blood
Familial Hypophosphatemic Rickets/genetics
Female
Humans
Infant
Male
Tunisia
[Pt] Publication type:CLINICAL TRIAL; JOURNAL ARTICLE
[Nm] Name of substance:0 (Receptors, Calcitriol)
[Em] Entry month:1704
[Cu] Class update date: 170428
[Lr] Last revision date:170428
[Js] Journal subset:IM
[Da] Date of entry for processing:161226
[St] Status:MEDLINE
[do] DOI:10.1159/000452886


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