Trusted Resources: Education

Scientific literature and patient education texts

101 resources available:

Raquitismo hipofosfatêmico ligado ao X: uma nova mutação

Brazilian Journal of Nephrology Year: 2020
O raquitismo fosfopênico pode ser causado por mutações no gene PHEX (ligado ao X do homólogo da endopeptidase que regula o fosfato). Atualmente, mais de 500 mutações no gene PHEX causam raquitismo hipofosfatêmico. Os autores relatam um caso clínico de uma menina de 4 anos com histórico familiar sem relevância, que apresentou falha no crescimento e arqueamento das pernas. Os exames laboratoriais mostraram hipofosfatemia, fosfatase alc...

Raquitismo Hipofosfatêmico: da Clínica à Genética Molecular

Arquivos Brasileiros de Endocrinologia & Metabologia Year: 2000
O raquitismo hipofosfatêmico dominante ligado ao cromossomo X é a forma mais comum de raquitismo familial, e caracteriza-se por hipofosfatemia associada a hiperfosfatúria e metabolismo anormal da vitamina D. Existem outras formas de hiperfosfatúrias hereditárias, sugerindo um complexo processo de homeostase do fosfato. Como não está definida qual a lesão básica do distúrbio, torna-se difícil o esclarecimento da fisiopatologia....

Raquitismo hipofosfatêmico e osteomalácia

Arquivos Brasileiros de Endocrinologia & Metabologia Year: 2006
Os distúrbios hipofosfatêmicos que comprometem a mineralização óssea englobam várias doenças, hereditárias e adquiridas, as quais compartilham um mesmo mecanismo fisiopatológico: a diminuição da reabsorção de fosfato nos túbulos renais. Este processo promove hiperfosfatúria e hipofosfatemia crônicas, associadas a níveis inapropriadamente normais ou baixos de 1,25 (OH)2D3, com conseqüente desordem do metabolismo ósteo-mineral...

Raquitismo Hipofosfatêmico: Relato De Caso

Revista Paulista de Pediatria Year: 2018
Objetivo: O raquitismo hipofosfatêmico precisa ser precocemente diagnosticado porque seu tratamento previne sequelas incapacitantes. Este relato alerta para a doença. Relato de caso: Relato de perfil metabólico, depuração de creatinina, estado nutricional e desenvolvimento pôndero-estatural de paciente com características clínico-laboratoriais de raquitismo hipofosfatêmico, atendido...
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. Resu...
Background:The primary purpose of this study was to collect data on the oral health-related quality of life (OHRQoL) of individuals with x-linked hypophosphatemia (XLH). It was also designed to gather information on the period of diagnosis, oral symptoms, orthodontic therapy, and satisfaction with dental care and the healthcare system. Methods:A questionnaire was developed to evaluate the OHR...
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5 resources available:

Manual Raro XLH

Instituto Vida Raras

O primeiro Manual XLH elaborado por uma Cientista Rara para o Brasil e o Mundo, a fim de auxiliar pessoas com doenças raras, XLHs, PCDs, estudantes e Profissionais da Saúde.

 

Objective:Adults with X-linked hypophosphatemia (XLH) may suffer from skeletal symptoms leading to functional disability. No data on their quality of life (QoL) have been reported so far. Our objectives were to evaluate the QoL and its determinants in XLH adults. Patients and Methods:We conducted a prospective study in XLH adults, who consulted for musculoskeletal symptoms between 2013 and 20...

Burosumab for Treating X-Linked Hypophosphataemia in Children and Young People

National Institute for Health and Care Excellence
RecommendationsBurosumab is recommended, within its marketing authorisation, for treating X‑linked hypophosphataemia (XLH) with radiographic evidence of bone disease in children aged 1 year and over, and in young people with growing bones. It is recommended only if the company provides burosumab according to the commercial arrangement. Why the Committee Made These RecommendationsXLH is a ge...
X-linked hypophosphataemia (XLH) is the most common cause of inherited phosphate wasting and is associated with severe complications such as rickets, lower limb deformities, pain, poor mineralization of the teeth and disproportionate short stature in children as well as hyperparathyroidism, osteomalacia, enthesopathies, osteoarthritis and pseudofractures in adults. The characteristics and severity of XLH vary between patients. Because of its r...

A Clinician’s Guide to X-Linked Hypophosphatemia

Journal of Bone and Mineral Research
X-linked hypophosphatemia (XLH) is the prototypic disorder of renal phosphate wasting, and the most common form of heritable rickets. Physicians, patients, and XLH support groups have all expressed concerns about the dearth of information about this disease and the lack of treatment guidelines which frequently lead to missed diagnoses or mismanagement. This perspective addresses the recommendation by conferees for the dissemination of concise...
44 resources available:
A saga pelo diagnóstico de uma doença rara é longa e dolorosa na maioria das vezes. Com o adolescente Pietro Nave Inglese, 14, não foi diferente. Após o nascimento, sua família levou três anos para finalmente descobrir o que ele tinha: raquitismo hipofosfatêmico ligado ao cromossomo X. A seguir, seu pai, Paulo Inglese Gonçalves Júnior, profissional de TI, 42, conta como foi essa busca e os desafios que a família enfrentou pa...

O que é XLH?

Orphanet

O raquitismo hipofosfatêmico ligado ao cromossomo X (XLH) é uma enfermidade crônica causada pela deficiência de fosfato, necessário para a formação dos ossos e dentes, composição do DNA e produção de energia no organismo.

O XLH tem origem genética, sendo geralmente herdado. A condição afeta crianças e adultos.

 

Hearing Impairment and XLH

XLH News Today - BioNews Services, LLC Year: 2020
Patients with X-linked hypophosphatemia (XLH) may experience hearing impairment or loss. There are many ways in which XLH may cause hearing impairment or loss. One way is through a protein called fibroblast growth factor 23 (FGF23). Low levels of PHEX, due to mutations in the PHEX gene, result in high levels of FGF23, which leads to a decrease in phosphate in the body (hypophosphatemia). This can lead to malformation of the bones in the middle...
XLH is inherited in an X-linked dominant pattern. In a family with a history of XLH, screen for other family members. This can help you identify previously undiagnosed individuals. About 20% to 30% of XLH cases are spontaneous. Ask about his/her medical history of short stature, rickets, osteomalacia, osteoarthritis, and dental abscesses, which may indicate XLH. Predominant Findings in Children: Rickets, lower extr...
You have X-linked hypophosphatemia (XLH), and you want to talk about it, but you’re not sure where to start. Use this conversation starter as a tool to begin the discussion with your family. Why Should Your Family Members Learn About XLH?  First, because XLH is a genetic disease, it can affect many people in the same family. The more you know about the disease, the better you’ll understand it, and the better you can teach your...
Talking with your doctor about XLH can be difficult, but there are ways to make it easier. The example questions below can help you start this conversation, share your concerns about XLH, and get answers to your questions. Learn About XLH: • How does XLH affect my body? • What are the symptoms of XLH? • I heard that I may have problems with my teeth and hearing. How will XLH affect my teeth and he...
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2 resources available:

SUN-523 XLH Outcome Data From One Centre Experience With Burosumab

Journal of the Endocrine Society Year: 2019
X-linked hypophosphataemia (XLH) is a rare, genetic, chronically debilitating and deformative bone disease that profoundly impacts the affected individual’s day-to-day functioning and quality of life. High levels of circulating fibroblast growth factor 23 (FGF23) lead to excess urinary phosphate excretion and subsequent hypophosphataemia, resulting in defective bone mineralisation. Burosumab is an anti-FGF23 fully human monoclonal antibody,...
Objectives:X-linked hypophosphatemia (XLH) is a rare inherited form of osteomalacia characterised by low blood phosphate levels which lead to inadequate mineralization of bone:rickets leading in turn to a spectrum of skeletal abnormalities, physical impairment, weakness, and pain. Burosumab is an anti-FGF23 fully human monoclonal antibody, and the first treatment to target the underlying pathophysiology of XLH. Real worl...
6 resources available:

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XLH Transitions Toolkit

XLH Link Year: 2019
Everyone goes through transitions, or changes, at certain times in their life. During these times your day-to-day life, routine, priorities, or responsibilities may change. For someone living with a chronic and progressive condition like XLH, these times can also come with unique or specific challenges.  This toolkit is designed to provide information and resources to help young adults with XLH and their parents/caregivers prepare to tr...

Hypophosphatemic Rickets (HR)

NIH - Genetic and Rare Diseases Information Center
Hypophosphatemic rickets (previously called vitamin D-resistant rickets) is a disorder in which the bones become painfully soft and bend easily, due to low levels of phosphate in the blood. Symptoms usually begin in early childhood and can range in severity. Severe forms may cause bowing of the legs and other bone deformities; bone pain; joint pain; poor bone growth; and short stature. In some affected babies, the space between the skull bones...

Hypophosphatemic Rickets, X-Linked Dominant; XLHR

Online Mendelian Inheritance in Man
Description:X-linked dominant hypophosphatemic rickets, although variable in its expressivity, is characterized by rickets with bone deformities, short stature, dental anomalies, and at the biologic level, hypophosphatemia with low renal phosphate reabsorption, normal serum calcium level with hypocalciuria, normal or low serum level of vitamin D (1,25(OH)2D3, or calcitriol), normal serum level of PTH, and increased activ...

FGF23 Gene Fibroblast Growth Factor 23

Genetics Home Reference - NIH
The FGF23 gene provides instructions for making a protein called fibroblast growth factor 23, which is produced in bone cells. This protein is necessary in regulating the phosphate levels within the body (phosphate homeostasis). Among its many functions, phosphate plays a critical role in the formation and growth of bones in childhood and helps maintain bone strength in adults. Phosphate levels are controlled in large part by the kidneys. The...
Clinical Characteristics:The phenotypic spectrum of X-linked hypophosphatemia (XLH) ranges from isolated hypophosphatemia to severe lower-extremity bowing. XLH frequently manifests in the first two years of life when lower-extremity bowing becomes evident with the onset of weight bearing; however, it sometimes is not manifest until adulthood, as previously unevaluated short stature. In adults, enthesopathy (calcification...

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