Results 81 to 90 of about 11,040 (189)

HYPOPHOSPHATEMIC RICKETS: CASE REPORT

, 2018
Objective: Early diagnosis and immediate treatment of hypophosphatemic rickets is of utmost importance as it may prevent subsequent sequelae. This report aims at warning pediatricians to consider the presence of the disease.
Maria Cristina de Andrade (5053805), Maria Luiza Dautro Moreira do Val (5053796), Paulo Cesar Koch Nogueira (5053802), Marta Liliane de Almeida Maia (5053808), Ana Lucia Santos Abreu (5053799), João Tomas de Abreu Carvalhaes (5053811)   +5 more
core   +2 more sources

CONTENTS OF SOME OSTEOTROPIC GROWTH FACTORS AND OSTEOGENESIS MARKERS IN BLOOD OF PATIENTS WITH OSTEOGENESIS IMPERFECTa AND HYPOPHOSPHATEMIC RICKETS

Сибирский научный медицинский журнал, 2019
In recent years there is intensive growth of the number of genetic diseases such as imperfect osteogenesis and hypophosphatemic rickets. Treatment of this category of patients includes surgical intervention, however in many cases there are recurrences of
E. P. Vykhovanets, S. N. Luneva, N. V. Nakoskina, E. R. Mingazov, A. V. Popkov   +4 more
doaj   +1 more source

Targeting Fibroblast Growth Factor 23 Signaling with Antibodies and Inhibitors, Is There a Rationale?

Frontiers in Endocrinology, 2018
Fibroblast growth factor 23 (FGF23) is a phosphotropic hormone mainly produced by bone. FGF23 reduces serum phosphate by suppressing intestinal phosphate absorption through reducing 1,25-dihydroxyvitamin D and proximal tubular phosphate reabsorption ...
Seiji Fukumoto
doaj   +1 more source

Familial hypophosphatemic rickets causing ocular calcification and optic canal narrowing.

, 1995
In a case of familial hypophosphatemic rickets, marked bone thickening caused narrowing of the optic canals, resulting in bilateral optic atrophy.
Edwards-Brown, M K, Caldemeyer, K S, Edwards-Brown, Mary K., Smith, R R, Caldemeyer, Karen S., Smith, Richard R.   +5 more
core   +2 more sources

Genetic Testing Confirmed the Early Diagnosis of X-Linked Hypophosphatemic Rickets in a 7-Month-Old Infant

Journal of Investigative Medicine High Impact Case Reports, 2015
Loss-of-function mutations in the p hosphate regulating gene with h omologies to e ndopeptidases on the X -chromosome ( PHEX ) have been causally associated with X-linked hypophosphatemic rickets (XLHR).
Kok Siong Poon BSc, Andrew Anjian Sng MBBS, MRCPCH, Cindy Weili Ho MBBS, MRCPCH, Evelyn Siew-Chuan Koay PhD, FRCPath, FAACB, Kah Yin Loke MBBS, MRCP (UK), FRCPCH   +4 more
doaj   +1 more source

Bilateral Pseudarthrosis of the Femoral Neck in a 25-Year-Old Male with Hereditary Hypophosphatemic Rickets

Case Reports in Orthopedics, 2014
Hereditary hypophosphatemic rickets (HHR) is a rare disorder of renal phosphate wasting and the most common form of heritable rickets. Here, we report a case of an active 25-year-old male with HHR showing atraumatic bilateral femoral neck pseudarthrosis ...
Joris Anthonissen, Christian Ossendorf, Thomas Vetter, Björn Habermann, Pol M. Rommens   +4 more
doaj   +1 more source

Hypophosphatemic Rickets: A New Mutation

, 2018
Introduction: Phosphopenic rickets is characterized by hypophosphatemia with hyperphosphaturia, normal calcemia and normal or mildly elevated PTH. This pathology may be caused by mutations in PHEX gene (phosphate regulating endopeptidase homolog X-linked)
Sousa, H, Maio, P, Freixo, J, Mano, L, Abranches, M, Rocha, S, Francisco, T   +6 more
core  

A PAI‐1 antagonist ameliorates hypophosphatemia in the Hyp vitamin D‐resistant rickets model mouse

FEBS Open Bio
Congenital fibroblast growth factor 23 (FGF23)‐related hypophosphatemic rickets/osteomalacia is a rare bone metabolism disorder characterized by hypophosphatemia and caused by genetic abnormalities that result in excessive secretion of FGF23.
Cheng Qian, Nobuaki Ito, Kunikazu Tsuji, Shingo Sato, Katsushi Kikuchi, Toshitaka Yoshii, Toshio Miyata, Yoshinori Asou   +7 more
doaj   +1 more source

Familial hypophosphatemic rickets: report of a case

, 2016
Familial Hypophosphatemic Rickets (FHR) wasfound for the first time by Albright in 1937 andis also called vitamin D resistant rickets. 1-3 It isa disease that can occur through x-linked dominant,autosom dominant, and sporadic inheritance.
Taralan Tambunan, Edi S Tehuteru
core   +1 more source

Hypophosphatemic Rickets as the Etiology of Papilledema and Early Visual Field Loss from Craniosynostosis

, 2014
We report a case of papilledema and early visual field loss from craniosynostosis related to hypophosphatemic rickets in a six-year-old girl. Hypophosphatemic rickets is caused by decreased reabsorption of inorganic phosphates in the renal tubules ...
Dara M. Bier; Sara A. Simpson; Divya Khurana; Svetlana Ten; Marc J. Dinkin
core