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Hypophosphatasia

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https://www.readbyqxmd.com/read/28888853/monitoring-guidance-for-patients-with-hypophosphatasia-treated-with-asfotase-alfa
#1
REVIEW
Priya S Kishnani, Eric T Rush, Paul Arundel, Nick Bishop, Kathryn Dahir, William Fraser, Paul Harmatz, Agnès Linglart, Craig F Munns, Mark E Nunes, Howard M Saal, Lothar Seefried, Keiichi Ozono
Hypophosphatasia (HPP) is a rare, inherited, systemic, metabolic disorder caused by autosomal recessive mutations or a single dominant-negative mutation in the gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). The disease is associated with a broad range of signs, symptoms, and complications, including impaired skeletal mineralization, altered calcium and phosphate metabolism, recurrent fractures, pain, respiratory problems, impaired growth and mobility, premature tooth loss, developmental delay, and seizures...
July 25, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28881669/genetic-evaluations-of-chinese-patients-with-odontohypophosphatasia-resulting-from-heterozygosity-for-mutations-in-the-tissue-non-specific-alkaline-phosphatase-gene
#2
Jia Wan, Li Zhang, Tang Liu, Yewei Wang
BACKGROUND: Hypophosphatasia is a rare heritable metabolic disorder characterized by defective bone and tooth mineralization accompanied by a deficiency of tissue-non-specific (liver/bone/kidney) isoenzyme of alkaline phosphatase activity, caused by a number of loss-of-function mutations in the alkaline phosphatase liver type gene. We seek to explore the clinical manifestations and identify the mutations associated with the disease in a Chinese odonto- hypophosphatasia family. RESULTS: The proband and his younger brother affected with premature loss of primary teeth at their 2-year-old...
August 1, 2017: Oncotarget
https://www.readbyqxmd.com/read/28808977/skeletal-dysplasias-what-every-bone-health-clinician-needs-to-know
#3
REVIEW
Sarah M Nikkel
PURPOSE OF REVIEW: This review highlights how skeletal dysplasias are diagnosed and how our understanding of some of these conditions has now translated to treatment options. RECENT FINDINGS: The use of multigene panels, using next-generation sequence technology, has improved our ability to quickly identify the genetic etiology, which can impact management. There are successes with the use of growth hormone in individuals with SHOX deficiencies, asfotase alfa in hypophosphatasia, and some promising data for c-type natriuretic peptide for those with achondroplasia...
August 14, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28802630/infantile-hypophosphatasia-combined-with-vitamin-b6-responsive-seizures-and-reticular-formation-lesions-on-magnetic-resonance-imaging-a-case-report
#4
Mitsuharu Fukazawa, Junichiro Tezuka, Momoko Sasazuki, Natsuko Masumoto, Haruhisa Baba, Takehiko Doi, Yasushi Tsutsumi, Yuji Mizuno, Futoshi Mihara, Hideki Nakayama
BACKGROUND: Hypophosphatasia (HPP) is a rare genetic disorder characterized by rachitic bone manifestations and a low serum alkaline phosphatase (ALP) level. It is caused by mutations in the tissue non-specific alkaline phosphatase (TNSALP) gene, which encodes the tissue non-specific isozyme of ALP. HPP patients exhibit various presentations depending on their age at onset, such as infantile HPP combined with vitamin B6-responsive seizures. CASE PRESENTATION: A newborn with infantile HPP presented with tonic convulsions from day 5 after birth and received intravenous vitamin B6 (10mg/kg/day pyridoxal phosphate)...
August 9, 2017: Brain & Development
https://www.readbyqxmd.com/read/28766503/could-biochemistry-lab-alert-for-low-alkaline-phosphatase-prompt-diagnosis-of-hypophosphatasia
#5
Asma Deeb, Elfatih Abubaker
OBJECTIVE: Hypophosphatasia (HPP) is an inborn error of metabolism with significant morbidity and mortality. Its presentation is non-specific leading to delay or missed diagnosis. Low ALP is a diagnostic test. Unlike high ALP, low level is commonly un-flagged by laboratories as abnormal. A new treatment has proved to be effective in HPP. We aim to study frequency of flagging of low ALP level by laboratory and the clinical manifestations of patients presenting with low ALP for a possible diagnosis of HPP...
August 2, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28763161/monoallelic-fgfr3-and-biallelic-alpl-mutations-in-a-thai-girl-with-hypochondroplasia-and-hypophosphatasia
#6
Thantrira Porntaveetus, Chalurmpon Srichomthong, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Skeletal dysplasias are a complex group of more than 350 disorders with phenotypic and genotypic heterogeneity affecting bone and cartilage growth. We studied a 2-year-old girl and her 21-year-old mother with disproportionate short stature. In addition to typical features of hypochondroplasia found in both patients, the child had deformities of the extremity bones, metaphyseal flares, and bilateral transverse (Bowdler) fibular spurs with overlying skin dimples detected at birth. Intravenous pamidronate was started in the child since the age of 17 days, and then every two months...
August 1, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28760128/analysis-of-musculoskeletal-dysmorphic-abnormalities-of-20-fetuses
#7
Mehmet Nuri Konya, Muhsin Elmas, Çiğdem Özdemir
OBJECTIVES: This study aims to report rates of skeletal abnormalities and their risk factors in light of information obtained in a fetal autopsy series. PATIENTS AND METHODS: The study included 20 fetuses (11 males, 8 females and 1 ambiguous genitalia; mean age 19.3±4.0 weeks; range 16 to 32 week) who underwent autopsy in our hospital between January 2013 and March 2015. Fetuses were systematically classified according to age, gender, family history, abortus week, abortus type, and extremity and organ abnormalities...
August 2017: Eklem Hastalıkları Ve Cerrahisi, Joint Diseases & related Surgery
https://www.readbyqxmd.com/read/28755823/identification-of-hypophosphatasia-in-a-clinical-setting-clinical-manifestations-and-diagnostic-recommendations-in-adult-patients
#8
Núria Guañabens, Josep Blanch, Guillermo Martínez-Díaz-Guerra, Manuel Muñoz Torres
No abstract text is available yet for this article.
July 26, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28748194/recurrent-metatarsal-fractures-in-postmenopausal-woman-with-low-serum-alkaline-phosphatase-a-rare-diagnosis-not-to-miss
#9
Umair Iqbal, Hafsa Anwar, Ahmad Chaudhary, Madiha Alvi, Amy Freeth
Hypophosphatasia (HPP) is a rare inborn error of metabolism due to a loss-of-function mutation in the gene for tissue nonspecific isoenzyme of alkaline phosphatase (ALP) that results in low levels of ALP. The clinical presentation of HPP is variable and in adults can easily be misdiagnosed as other forms of osteomalacia. We present a case of a 53-year-old Caucasian female who was evaluated for recurrent metatarsal fractures. She reported her first metatarsal fracture at age 21, and since then had at least 8 more metatarsal fractures over her lifetime, most without injury other than weight bearing...
July 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28731215/hypophosphatasia-in-adults-clinical-assessment-and-treatment-considerations
#10
Jay R Shapiro, E Michael Lewiecki
Hypophosphatasia (HPP) is a rare inherited disorder of bone affecting approximately 500-600 known individuals in the US. HPP is due to mutations involving the gene for tissue non-specific alkaline phosphatase. Five clinical types of HPP are recognized. The clinical presentation of HPP varies from devastating prenatal intrauterine disease to mild manifestations in adulthood. In adults, main clinical involvement includes early loss of primary or secondary teeth, osteoporosis, bone pain, chondrocalcinosis, and fractures...
July 21, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28727343/-hypophosphatasia
#11
Eleni Tsiantouli, Andrea Trombetti, Serge Ferrari
Hypophosphatasia (HPP) is an inborn metabolic bone disorder caused by loss-of-function mutations in the gene encoding tissue nonspecific alkaline phosphatase (TNSALP). The adult form can be mistaken with common osteoporosis and/or present recurrent metatarsal fractures, skeletal and muscular pain. Subtrochanteric femoral pseudofractures resembling bisphosphonate-associated atypical femoral fractures can also be present, and Bps are therefore contraindicated in HPP. Early tooth loss and renal calcifications can orient towards the diagnosis...
April 19, 2017: Revue Médicale Suisse
https://www.readbyqxmd.com/read/28727174/alkaline-phosphatase-discovery-and-naming-of-our-favorite-enzyme
#12
Alejandro F Siller, Michael P Whyte
Alkaline phosphatase can be considered "our favorite enzyme" for reasons apparent to those who diagnose and treat metabolic bone diseases or who study skeletal biology. Few might know, however, that alkaline phosphatase likely represents the most frequently assayed enzyme in all of Medicine. Elevated activity in the circulation is universally recognized as a marker for skeletal or hepatobiliary disease. Nevertheless, the assay conditions in many ways are non-physiological. The term alkaline phosphatase emerged when it became necessary to distinguish "bone phosphatase" from the phosphatase in the prostate that features an acidic pH optimum...
July 20, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28720214/-hypophosphatasia-clinical-manifestations-diagnostic-recommendations-and-therapeutic-options
#13
Gabriel A Martos-Moreno, Joan Calzada, María L Couce, Jesús Argente
Hypophosphatasia is a very rare bone metabolism disorder caused by a deficiency in alkaline phosphatase activity, due to mutations in the ALPL gene. Its clinical hallmark is the impairment of skeletal and teeth mineralisation, although extra-skeletal manifestations are frequent. Its phenotypic spectrum is widely variable from a subtype with exclusive odontological impairment (odontohypophosphatasia) to five subtypes with systemic involvement, classified according to the age at the onset of the first symptoms (four of them in the paediatric age range: perinatal lethal, perinatal benign, infant and childhood hypophosphatasia)...
July 15, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/28663156/clinical-and-genetic-findings-of-turkish-hypophosphatasia-cases
#14
Halil Sağlam, Şahin Erdöl, Sevil Dorum
OBJECTIVE: Hypophosphatasia (HPP) is a rare, commonly unrecognized hereditary mineralization defect with a dramatically poor prognosis in severe cases. This study is the first to examine the detailed clinical and laboratory characteristics of patients with HPP and healthy carriers in Turkey. METHODS: The study data were obtained retrospectively from the files of 10 healthy carriers and of 16 cases with HPP (12 children and 4 adults) who were followed in our center from 2012 to 2016...
September 1, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28662950/a-newborn-with-no-bones-neonatal-hypophosphatasia-with-respiratory-distress
#15
Zishan Sheikh, Sana Ali, Adam Hussain, Shyam Mohan, Manigandan Thyagarajan
No abstract text is available yet for this article.
September 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28615507/genetic-evaluations-of-chinese-patients-with-odontohypophosphatasia-resulting-from-heterozygosity-for-mutations-in-the-tissue-non-specific-alkaline-phosphatase-gene
#16
Jia Wan, Li Zhang, Tang Liu, Yewei Wang
BACKGROUND: Hypophosphatasia is a rare heritable metabolic disorder characterized by defective bone and tooth mineralization accompanied by a deficiency of tissue-non-specific (liver/bone/kidney) isoenzyme of alkaline phosphatase activity, caused by a number of loss-of-function mutations in the alkaline phosphatase liver type gene. We seek to explore the clinical manifestations and identify the mutations associated with the disease in a Chinese odonto- hypophosphatasia family. RESULTS: The proband and his younger brother affected with premature loss of primary teeth at their 2-year-old...
May 23, 2017: Oncotarget
https://www.readbyqxmd.com/read/28586049/a-novel-missense-mutation-in-the-alpl-gene-causes-dysfunction-of-the-protein
#17
Bin Chen, Lili Li, Weitong Ren, Long Yi, Yaping Wang, Fuhua Yan
Hypophosphatasia (HP) is a rare genetic disease caused by mutation in the alkaline phosphatase, liver/bone/kidney (ALPL) gene with highly variable clinical manifestations. Efforts have been made to collect cases with novel mutations and to examine how a missense mutation affects ALPL protein function, which remains difficult to predict. The present study investigated the underlying mechanism of ALPL dysfunction in a patient diagnosed with HP. Bidirectional sequencing of the ALPL gene was conducted in a 5‑year‑old Chinese girl preliminary diagnosed with childhood HP...
July 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28580391/case-series-odontohypophosphatasia-or-missed-diagnosis-of-childhood-adult-onset-hypophosphatasia-call-for-a-long-term-follow-up-of-premature-loss-of-primary-teeth
#18
Mari Mori, Stephanie L DeArmey, Thomas J Weber, Priya S Kishnani
INTRODUCTION: Hypophosphatasia, a metabolic bone disease caused by a tissue-nonspecific alkaline phosphatase deficiency, leads to undermineralization of bone and/or teeth, impaired vitamin B6 metabolism, and a spectrum of disease presentation. At the mild end of the spectrum, it presents as pathologic fractures in later adulthood. Patients with isolated dental manifestations, typically presenting as premature loss of primary teeth, are classified as having odontohypophosphatasia (odontoHPP)...
December 2016: Bone Reports
https://www.readbyqxmd.com/read/28547134/clinical-radiographic-and-biochemical-characteristics-of-adult-hypophosphatasia
#19
T Schmidt, H Mussawy, T Rolvien, T Hawellek, J Hubert, W Rüther, M Amling, F Barvencik
In this study, we report on clinical, radiographic and biochemical characteristics of 38 patients with adult hypophosphatasia. High-resolution peripheral quantitative computed tomography showed alterations of bone microstructure in a subgroup of 14 patients. Pyridoxal-5-phosphate levels correlated with the occurrence of fractures and the number of symptoms. INTRODUCTION: Hypophosphatasia (HPP) is a rare disorder with a wide range of clinical manifestations. A reduced enzymatic activity of alkaline phosphatase (ALP) is the key marker of the disease, causing an accumulation of ALP substrates such as pyridoxal-5-phosphate (PLP)...
May 25, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28530318/-severe-infantile-hypophosphatasia
#20
Evgenia Gurevich, Daniel Landau
Hypophosphatasia is the inborn error of metabolism that is characterized by low serum alkaline-phosphatase activity, due to loss-of-function mutations within the gene for tissuenonspecific isoenzyme of alkaline phosphatase [TNSALP]. The manifestations of hypophosphatasia range from neonatal death with almost no skeletal mineralization to dental problems in adults without any bone symptoms. There are no case reports of infantile hypophosphatasia in Israel. The existence of enzymatic replacement treatment for this disease makes it important to diagnose this problem as soon as possible...
January 2017: Harefuah
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