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Hypophosphatasemia

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https://www.readbyqxmd.com/read/29039873/tillf%C3%A3-rlitliga-referensintervall-kr%C3%A3-vs-f%C3%A3-r-v%C3%A3-rdering-av-p-alp-nya-pediatriska-referensintervall-f%C3%A3-r-alkaliskt-fosfatas-har-klinisk-betydelse-f%C3%A3-r-att-hitta-r%C3%A3-tt-till-diagnosen
#1
Per Magnusson
Age- and gender-specific reference intervals are pivotal to ensure appropriate interpretation of plasma alkaline phosphatase activities in the lower range Hypophosphatasia (HPP) is an inborn error of metabolism caused by loss-of-function mutations of the ALPL gene that mainly express alkaline phosphatase (ALP) in bone and liver. The clinical expression of HPP is highly variable and is classified into six different forms mainly affecting bone and tooth mineralization. The prognosis for each of these HPP forms depends upon the severity of the skeletal disease which reflects the age at presentation...
October 16, 2017: Läkartidningen
https://www.readbyqxmd.com/read/28401263/mutational-and-biochemical-findings-in-adults-with-persistent-hypophosphatasemia
#2
F E McKiernan, J Dong, R L Berg, E Scotty, P Mundt, L Larson, I Rai
A majority of adults with persistently low serum alkaline phosphatase values carry a pathogenic or likely pathogenic variant in the ALPL gene and also have elevated alkaline phosphatase substrate values in serum and urine. These adults may fall within the spectrum of the adult form of hypophosphatasia. INTRODUCTION: The primary objective of this study was to determine what proportion of adults with persistently low serum alkaline phosphatase values (hypophosphatasemia) harbor mutations in the ALPL gene or have elevated alkaline phosphatase (ALP) substrates...
August 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28238808/hypophosphatasia-an-overview-for-2017
#3
Michael P Whyte
Hypophosphatasia (HPP) is the inborn-error-of-metabolism that features low serum alkaline phosphatase (ALP) activity (hypophosphatasemia) caused by loss-of-function mutation(s) of the gene that encodes the tissue-nonspecific isoenzyme of ALP (TNSALP). Autosomal recessive or autosomal dominant inheritance from among >300 TNSALP (ALPL) mutations largely explains HPP's remarkably broad-ranging severity. TNSALP is a cell-surface homodimeric phosphohydrolase richly expressed in the skeleton, liver, kidney, and developing teeth...
September 2017: Bone
https://www.readbyqxmd.com/read/28127875/molecular-and-clinical-analysis-of-alpl-in-a-cohort-of-patients-with-suspicion-of-hypophosphatasia
#4
MULTICENTER STUDY
Jair Tenorio, Ignacio Álvarez, Leyre Riancho-Zarrabeitia, Gabriel Á Martos-Moreno, Giorgia Mandrile, Monserrat de la Flor Crespo, Mikhail Sukchev, Mostafa Sherif, Iza Kramer, María T Darnaude-Ortiz, Pedro Arias, Gema Gordo, Irene Dapía, Julián Martinez-Villanueva, Rubén Gómez, José Manuel Iturzaeta, Ghada Otaify, Mayte García-Unzueta, Alessandro Rubinacci, José A Riancho, Mona Aglan, Samia Temtamy, Mohamed Abdel Hamid, Jesús Argente, Víctor L Ruiz-Pérez, Karen E Heath, Pablo Lapunzina
Hypophosphatasia (HPP) is a rare autosomal dominant or recessive metabolic disorder caused by mutations in the tissue nonspecific alkaline phosphatase gene (ALPL). To date, over 300 different mutations in ALPL have been identified. Disease severity is widely variable with severe forms usually manifesting during perinatal and/or infantile periods while mild forms are sometimes only diagnosed in adulthood or remain undiagnosed. Common clinical features of HPP are defects in bone and tooth mineralization along with the biochemical hallmark of decreased serum alkaline phosphatase activity...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/24443354/clinical-and-radiographic-findings-in-adults-with-persistent-hypophosphatasemia
#5
Fergus Eoin McKiernan, Richard L Berg, Jay Fuehrer
A serum alkaline phosphatase value below the age-adjusted lower limits of normal (hypophosphatasemia) is uncommonly encountered in clinical practice. The electronic and paper medical records of 885,165 patients treated between 2002 and 2012 at a large, rural, multispecialty health clinic were interrogated to estimate the prevalence and characterize the clinical and radiographic findings of adults whose serum alkaline phosphatase was almost always low (persistent hypophosphatasemia). We hypothesized that some of these patients might harbor previously unrecognized hypophosphatasia, a rare, inherited condition of impaired mineralization of bones and teeth...
July 2014: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/23912555/acute-hypophosphatasemia
#6
F E McKiernan, L K Shrestha, R L Berg, J Fuehrer
UNLABELLED: The temporal evolution of a low serum alkaline phosphatase value may relate to its cause. Precipitous lowering of serum alkaline phosphatase below the lower range of normal is uncommon and may indicate severe physiologic stress and increased short-term mortality. INTRODUCTION: The differential diagnosis of a low serum alkaline phosphatase (ALP) value (hypophosphatasemia) is wide ranging, anecdotal, and unfamiliar. The temporal evolution of hypophosphatasemia may relate to its cause...
February 2014: Osteoporosis International
https://www.readbyqxmd.com/read/17229666/low-serum-alkaline-phosphatase-activity-and-pathologic-fracture-case-report-and-brief-review-of-hypophosphatasia-diagnosed-in-adulthood
#7
REVIEW
Hasnain M Khandwala, Steven Mumm, Michael P Whyte
OBJECTIVE: To describe an elderly patient with low serum alkaline phosphatase (ALP) activity detected after a pathologic fracture and to characterize hypophosphatasia in adult patients. METHODS: We present a case report of a 64-year-old woman, who was referred after sustaining an atraumatic femoral fracture treated successfully with intramedullary nailing. Clinical, biochemical, radiologic, and molecular studies explore the differential diagnosis of her hypophosphatasemia, and the features, diagnosis, and management of the adult form of hypophosphatasia are reviewed...
November 2006: Endocrine Practice
https://www.readbyqxmd.com/read/17213282/adult-hypophosphatasia-treated-with-teriparatide
#8
Michael P Whyte, Steven Mumm, Chad Deal
INTRODUCTION: Hypophosphatasia (HPP) features low serum alkaline phosphatase (ALP) activity (hypophosphatasemia) due to loss-of-function mutation within TNSALP, the gene that encodes "tissue-nonspecific" ALP (TNSALP). Consequently, inorganic pyrophosphate accumulates extracellularly and impairs skeletal mineralization. Affected adults manifest osteomalacia, often with slowly healing metatarsal stress fractures (MTSFs) and proximal femur pseudofractures. Pharmacotherapy remains elusive...
April 2007: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/14223333/-hypophosphatasemia
#9
C E DENT, J HALPERN, D HOJMAN, E ROSEMBLIT
No abstract text is available yet for this article.
September 1964: Revista de la Asociación Médica Argentina
https://www.readbyqxmd.com/read/14146358/-osteopathy-due-to-hypophosphatasemia-clinical-and-radiological-findings
#10
U PLASTINA, G PANDOLFO, A CROSCA
No abstract text is available yet for this article.
April 1964: La Radiologia Medica
https://www.readbyqxmd.com/read/13184387/a-clinical-pathological-study-of-a-congenital-skeletal-disease-with-retarded-growth-hypophosphatasemia-and-renal-damage
#11
B ENGFELDT, R ZETTERSTROM
No abstract text is available yet for this article.
August 1954: Journal of Pediatrics
https://www.readbyqxmd.com/read/7867486/-familial-hypophosphatasemia
#12
J D Ringe
No abstract text is available yet for this article.
February 24, 1995: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/7706447/alkaline-phosphatase-placental-and-tissue-nonspecific-isoenzymes-hydrolyze-phosphoethanolamine-inorganic-pyrophosphate-and-pyridoxal-5-phosphate-substrate-accumulation-in-carriers-of-hypophosphatasia-corrects-during-pregnancy
#13
COMPARATIVE STUDY
M P Whyte, M Landt, L M Ryan, R A Mulivor, P S Henthorn, K N Fedde, J D Mahuren, S P Coburn
Hypophosphatasia features selective deficiency of activity of the tissue-nonspecific (liver/bone/kidney) alkaline phosphatase (ALP) isoenzyme (TNSALP); placental and intestinal ALP isoenzyme (PALP and IALP, respectively) activity is not reduced. Three phosphocompounds (phosphoethanolamine [PEA], inorganic pyrophosphate [PPi], and pyridoxal 5'-phosphate [PLP]) accumulate endogenously and appear, therefore, to be natural substrates for TNSALP. Carriers for hypophosphatasia may have decreased serum ALP activity and elevated substrate levels...
April 1995: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/7072744/adult-hypophosphatasia-with-chondrocalcinosis-and-arthropathy-variable-penetrance-of-hypophosphatasemia-in-a-large-oklahoma-kindred
#14
M P Whyte, W A Murphy, M D Fallon
Three sisters, each with chondrocalcinosis/arthropathy, are described who have the clinical, laboratory and pathologic findings characteristic of the adult form of hypophosphatasia. Premature loss of adult teeth, arthralgias and pain from bilateral femoral pseudo-fractures were associated with subnormal circulating alkaline phosphatase levels, phosphoethanolaminuria and osteomalacia diagnosed by iliac crest biopsy. Assay of alkaline phosphatase activity in the blood of kindred members revealed hypophosphatasemia in one of two younger brothers...
April 1982: American Journal of Medicine
https://www.readbyqxmd.com/read/5137406/-on-a-case-of-congenital-hypophosphatasemia
#15
L Pagliano Sassi, G Torti, V Consale
No abstract text is available yet for this article.
September 15, 1971: Minerva Pediatrica
https://www.readbyqxmd.com/read/5131915/-on-a-case-of-congenital-hypophosphatasemia
#16
L Pagliano Sassi, G Torti, V Console
No abstract text is available yet for this article.
September 15, 1971: Minerva Pediatrica
https://www.readbyqxmd.com/read/3944698/infantile-hypophosphatasia-normalization-of-circulating-bone-alkaline-phosphatase-activity-followed-by-skeletal-remineralization-evidence-for-an-intact-structural-gene-for-tissue-nonspecific-alkaline-phosphatase
#17
COMPARATIVE STUDY
M P Whyte, H L Magill, M D Fallon, H G Herrod
After a 3-month course of weekly intravenous infusions of pooled normal plasma in an attempt at enzyme replacement therapy, we observed gradual and prolonged normalization of circulating alkaline phosphatase (AP) activity in a boy with infantile hypophosphatasia. During this 4-month period, when hypophosphatasemia had been corrected, electrophoretic and heat denaturation studies suggested that the AP in serum was skeletal in origin. Serial radiographic and histologic studies of bone demonstrated skeletal remineralization and the appearance of AP activity in osteoblasts and chondrocytes after the infusions...
January 1986: Journal of Pediatrics
https://www.readbyqxmd.com/read/3796548/-hypophosphatasemia-rickets-contribution-of-a-case-of-the-neonatal-form
#18
M L Colombo, P Dogliani, B M Ricci, L Magnetti, M P Buschini, A Guala, G Lopez Bell
No abstract text is available yet for this article.
October 15, 1986: Minerva Pediatrica
https://www.readbyqxmd.com/read/3062029/alkaline-phosphatase-laboratory-and-clinical-implications
#19
REVIEW
W Meyer-Sabellek, P Sinha, E Köttgen
Alkaline phosphatase (ALP), which was discovered in 1907, is extensively reviewed. The first section deals with biochemical aspects of ALP, e.g. the anchorage of ALP to cell membranes via a phosphatidylinositol linkage, the charge and molecular mass heterogeneities and their causes, and methods for the separation and analysis of ALP isoforms using the newest electrophoresis techniques, such as affinity electrophoresis with wheatgerm lectin and isoelectric focusing in immobilized pH gradients. The second section deals exclusively with the clinical implications of ALP analysis in diseased states, e...
July 29, 1988: Journal of Chromatography
https://www.readbyqxmd.com/read/870284/cestrum-diurnum-intoxication-in-normal-and-hyperparathyroid-pigs
#20
O B Kasali, L Krook, W G Pond, R H Wasserman
The effect of ingestion of dried leaves of Cestrum diurnum, a plant shown to contain a 1,25-dihydroxycholecalciferol-like principle, was tested in normal pigs fed 1.2% calcium and 1.0% phosphorus for 10 weeks from weaning and in hyperparathyroid pigs fed 0.8% calcium and 1.6% phosphorus for the same periods of time. Addition of 3% Cestrum diurnum leaf meal rapidly resulted in decreased feed consumption and weight gain, hypercalcemia and hypophosphatasemia. In normal pigs, plasma calcium rose to 16 mg/100 ml within one week and remained high for the 4 week experimental period...
April 1977: Cornell Veterinarian
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