Read by QxMD icon Read

"X linked hypophosphatemic rickets"

Qing Ran, Feng Xiong, Min Zhu, Lei-Li Deng, Pei-Yun Lei, Yan-Hong Luo, Yan Zeng, Gao-Hui Zhu, Cui Song
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...
May 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
Marta Lempicki, Anya Rothenbuhler, Valérie Merzoug, Stéphanie Franchi-Abella, Catherine Chaussain, Catherine Adamsbaum, Agnès Linglart
OBJECTIVE: X-linked hypophosphatemic rickets (XLH) is the most common form of inheritable rickets. Rickets treatment is monitored by assessing alkaline phosphatase (ALP) levels, clinical features, and radiographs. Our objectives were to describe the magnetic resonance imaging (MRI) features of XLH and to assess correlations with disease activity. STUDY DESIGN: Twenty-seven XLH patients (median age 9.2 years) were included in this prospective single-center observational study...
April 3, 2017: Hormone Research in Pædiatrics
G P Colares Neto, R M R Pereira, J C Alvarenga, L Takayama, M F A Funari, R M Martin
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...
February 13, 2017: Osteoporosis International
Shoji Ichikawa, Rita L Gerard-O'Riley, Dena Acton, Amie K McQueen, Isabel E Strobel, Phillip C Witcher, Jian Q Feng, Michael J Econs
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...
March 1, 2017: Endocrinology
Masaru Katoh
Fibroblast growth factor (FGF) signaling through its receptors, FGFR1, FGFR2, FGFR3, or FGFR4, regulates cell fate, angiogenesis, immunity, and metabolism. Dysregulated FGF signaling causes human diseases, such as breast cancer, chondrodysplasia, gastric cancer, lung cancer, and X-linked hypophosphatemic rickets. Recombinant FGFs are pro-FGF signaling therapeutics for tissue and/or wound repair, whereas FGF analogs and gene therapy are under development for the treatment of cardiovascular disease, diabetes, and osteoarthritis...
December 2016: Trends in Pharmacological Sciences
Cameron C Wick, Sharon J Lin, Heping Yu, Cliff A Megerian, Qing Yin Zheng
HYPOTHESIS: Phosphorus and vitamin D (calcitriol) supplementation in the Phex mouse, a murine model for endolymphatic hydrops (ELH), will improve otic capsule mineralization and secondarily ameliorate the postnatal development of ELH and sensorineural hearing loss (SNHL). BACKGROUND: Male Phex mice have X-linked hypophosphatemic rickets (XLH), which includes osteomalacia of the otic capsule. The treatment for XLH is supplementation with phosphorus and calcitriol...
January 2017: American Journal of Otolaryngology
Qian Zhang, Michele Doucet, Ryan E Tomlinson, Xiaobin Han, L Darryl Quarles, Michael T Collins, Thomas L Clemens
Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome in which ectopic production of fibroblast growth factor 23 (FGF23) by non-malignant mesenchymal tumors causes phosphate wasting and bone fractures. Recent studies have implicated the hypoxia-inducible factor-1α (HIF-1α) in other phosphate wasting disorders caused by elevated FGF23, including X-linked hypophosphatemic rickets and autosomal dominant hypophosphatemia. Here we provide evidence that HIF-1α mediates aberrant FGF23 in TIO by transcriptionally activating its promoter...
2016: Bone Research
E Du, L Xiao, M M Hurley
High molecular weight FGF2 transgenic mice (HMWTg) phenocopy the Hyp mouse, homolog of human X-linked hypophosphatemic rickets with phosphate wasting and abnormal fibroblast growth factor (FGF23), fibroblast growth factor receptor (FGFR), Klotho and mitogen activated protein kinases (MAPK) signaling in kidney. In this study, we assessed whether short-term (24 h) in vivo administration of FGF23 neutralizing antibody (FGF23Ab) could rescue hypophosphatemia and impaired FGFR signaling in kidneys of HMWTg male mice...
March 2017: Journal of Cellular Physiology
Gabriel Á Martos Moreno, Cristina Aparicio, Carmen de Lucas, Helena Gil Peña, Jesús Argente
No abstract text is available yet for this article.
July 2016: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
S Kinoshita, M Kawai
The functions of Klotho (KL) are multifaceted and include the regulation of aging and mineral metabolism. It was originally identified as the gene responsible for premature aging-like symptoms in mice and was subsequently shown to function as a coreceptor in the fibroblast growth factor (FGF) 23 signaling pathway. The discovery of KL as a partner for FGF23 led to significant advances in understanding of the molecular mechanisms underlying phosphate and vitamin D metabolism, and simultaneously clarified the pathogenic roles of the FGF23 signaling pathway in human diseases...
2016: Vitamins and Hormones
Natalie M Stinton, Karen A Uston, Courtney D Davis
The purpose of this report is to describe the diagnosis and dental treatment of a medically complex 14-year-old boy with X-linked hypophosphatemic rickets who presented with a pre-eruptive abscess on a mandibular molar and facial swelling.
2016: Journal of Dentistry for Children
Diana Ovejero, Rachel I Gafni, Michael T Collins
No abstract text is available yet for this article.
May 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
Kok Siong Poon, Andrew Anjian Sng, Cindy Weili Ho, Evelyn Siew-Chuan Koay, Kah Yin Loke
Loss-of-function mutations in the phosphate regulating gene with homologies to endopeptidases on the X-chromosome (PHEX) have been causally associated with X-linked hypophosphatemic rickets (XLHR). The early diagnosis of XLHR in infants is challenging when it is based solely on clinical features and biochemical findings. We report a 7-month-old boy with a family history of hypophosphatemic rickets., who demonstrated early clinical evidence of rickets, although serial biochemical findings could not definitively confirm rickets...
July 2015: Journal of Investigative Medicine High Impact Case Reports
Chen Fang, Hui Li, Xiaozhen Li, Wenjin Xiao, Yun Huang, Wu Cai, Yi Yang, Ji Hu
A new missense mutation on the X chromosome (PHEX) at exon 4(c.442C>T) in a 4-generation Chinese Han pedigree is reported. The proband and four family members were clinically identified as the X-linked hypophosphatemic rickets (XLH) which is a dominant inherited disorder characterized by renal phosphate wasting, aberrant vitamin D metabolism, and abnormal bone mineralization. The proband is identified as hemizygous with the four female family members to be heterozygous genotypes. The discovery was made through the complete sequencing of the exons and the intron-exon boundaries of the PHEX gene of this family...
May 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
Yuka Kinoshita
Excessive actions of fibroblast growth factor 23(FGF23)result in several kinds of hypophosphatemic rickets and osteomalacia. A combination of oral active vitamin D3 and phosphate is the current standard therapy for FGF23-related hypophosphatemia. However, these medications can lead to long-term complications, such as secondary hyperparathyroidism and renal impairment. Therefore, safer and more efficient therapy to correct excessive actions of FGF23 is needed. X-linked hypophosphatemic rickets(XLHR)is the most prevalent form of FGF23-related hypophosphatemia...
February 2016: Clinical Calcium
Erxia Du, Liping Xiao, Marja M Hurley
High molecular weight FGF2 transgenic (HMWTg) mouse phenocopies the Hyp mouse, homolog of human X-linked hypophosphatemic rickets with hypophosphatemis, and abnormal FGF23, FGFR, Klotho signaling in kidney. Since abnormal Wnt signaling was reported in Hyp mice we assessed whether Wnt signaling was impaired in HMWTg kidneys and the effect of blocking FGF receptor (FGFR) signaling. Bone mineral density and bone mineral content in female HMWTg mice were significantly reduced. HMWTg mice were gavaged with FGFR inhibitor NVP-BGJ398, or vehicle and were euthanized 24 h post treatment...
September 2016: Journal of Cellular Biochemistry
Phillip Jaszczuk, Gary F Rogers, Raphael Guzman, Mark R Proctor
PURPOSE: A defect in a phosphate-regulating gene leads to the most common form of rickets: X-linked hypophosphatemic rickets (XLH) or vitamin D-resistant rickets (VDDR). XLH has been associated with craniosynostosis, the sagittal suture being the most commonly involved. METHODS: We present three patients with rickets and symptomatic sagittal suture craniosynostosis all of whom presented late (>2 years of age). Two had a severe phenotype and papilledema, while the third presented with an osseous bulging near the anterior fontanel and experienced chronic headaches...
May 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Itsuro Endo, Seiji Fukumoto, Keiichi Ozono, Noriyuki Namba, Daisuke Inoue, Ryo Okazaki, Mika Yamauchi, Toshitsugu Sugimoto, Masanori Minagawa, Toshimi Michigami, Masaki Nagai, Toshio Matsumoto
A nationwide epidemiologic survey of fibroblast growth factor 23 (FGF23)-related hypophosphatemic diseases was conducted in 2010 to clarify the prevalence and the clinical presentations of the disorders. A questionnaire inquiring the experience of patients with these diseases was sent to randomly selected hospitals throughout Japan. The estimated annual incidence of the diseases was 117 cases (95% CI 75 - 160), 55 males (95% CI 30 - 81) and 62 females (95% CI 40 - 84). Tumor-induced osteomalacia (TIO) and X-linked hypophosphatemic rickets (XLH) were the most prevalent causes of acquired and genetic FGF23-related hypophosphatemic diseases, respectively...
2015: Endocrine Journal
Silvia Capelli, Valentina Donghi, Katia Maruca, Giuseppe Vezzoli, Sabrina Corbetta, Maria Luisa Brandi, Stefano Mora, Giovanna Weber
CONTEXT: Hypophosphatemic rickets (HR) is a rare disease that includes a group of hereditary and sporadic conditions characterized by renal phosphate loss associated with normal to low vitamin D serum concentration. The most common form is the X-linked hypophosphatemic rickets, with an incidence of 1:20,000. Several mutations have recently been identified in the PHEX, FGF23, DMP1 and ENPP1 genes in patients with HR. Moreover, in vitro and in vivo studies suggested an involvement of MEPE for defective mineralization in HR...
October 2015: Bone
Lesya V Zelenchuk, Anne-Marie Hedge, Peter S N Rowe
CONTEXT: Mice with null mutations in matrix extracellular phosphoglycoprotein (MEPE) have increased bone mass, increased trabecular density and abnormal cancellous bone (MN-mice). These defects worsen with age and MEPE overexpression induces opposite effects. Also, genome wide association studies show that MEPE plays a major role in bone mass. We hypothesized that the conserved C-terminal MEPE ASARM-motif is chiefly responsible for regulating bone mass and trabecular structure. DESIGN: To test our theory we overexpressed C-terminal ASARM-peptide in MN-mice using the Col1α1 promoter (MNAt-mice)...
October 2015: Bone
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"