Background:To determine the genetic lesions and to modify the clinical diagnosis for a Chinese family with significant intrafamilial phenotypic diversities and unusual presentations. Methods:Three affected patients and the asymptomatic father were included and received comprehensive systemic examinations. Whole exome sequencing (WES) was performed for mutation detection. Structural modeling t...

Genetic Causes of Rickets

Journal of Clinical Research in Pediatric Endocrinology
Rickets is a metabolic bone disease that develops as a result of inadequate mineralization of growing bone due to disruption of calcium, phosphorus and/or vitamin D metabolism. Nutritional rickets remains a significant child health problem in developing countries. In addition, several rare genetic causes of rickets have also been described, which can be divided into two groups. The first group consists of genetic disorders of vitamin D biosynt...
Objective:To describe clinical findings, biochemical profile and genetic analysis in an Iranian kindred with hereditary hypophosphatemic rickets with hypercalciuria (HHRH). Methods:Clinical examination and biochemical profile results and gene analysis of 12 members of a family of a patient previously diagnosed with HHRH due to SLC34A3 mutation. Ten healthy controls were also evaluated....

Dental Management of Patients With X-Linked Hypophosphatemia

Restorative Dentistry and Endodontics
X-linked hypophosphatemia (XLH) is a hereditary metabolic disease caused by the loss of phosphate through the renal tubules into the urine, and an associated decrease in serum calcium and potassium phosphate. Its dental features include spontaneous dental abscesses that occur in the absence of trauma or dental caries. The aim of this case report was to describe the dental problems of XLH patients and to evaluate limitations in their treatment....

Recent Advance in FGF23 – Clinical Perspectives

International Journal of Pediatric Endocrinology volume
Fibroblast growth factor 23 (FGF23) is a circulating factor that plays a central role in the renal reabsorption of Pi and metabolism of vitamin D. It is mainly produced by osteocytes in bone and exerts its effects on distant organs such as the kidney and parathyroid in an endocrine fashion. FGF23 increases renal Pi excretion by reducing the expression of type 2a and 2c sodium/phosphate (Na+/Pi) co-transporters in the proximal tubules. In addit...
Background:Rare bone diseases account for 5% of all birth defects yet very few have personalised treatments. Developments in genetic diagnosis, molecular techniques and treatment technologies however, are leading to unparalleled therapeutic advance. This review explores the evolving therapeutic landscape of genetic skeletal disorders (GSDs); the key conditions and there key differentials. Methods:<...
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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...

An Introduction to X-Linked Hypophosphatemia (XLH)

NIH - Genetic and Rare Diseases Information Center
X-linked hypophosphatemia (XLH) is an inherited disorder characterized by low levels of phosphate in the blood. Phosphate levels are low because phosphate is abnormally processed in the kidneys, which causes a loss of phosphate in the urine (phosphate wasting) and leads to soft, weak bones (rickets). XLH is usually diagnosed in childhood. Features include bowed or bent legs, short stature, bone pain, and severe dental pain. XLH is caused by mu...
Effectively managing treatment and care for a rare disease such as X-linked hypophosphatemia (XLH) can be challenging. So, when you go to your doctor it is important to be prepared for a meaningful dialogue about your condition. Here Are Five Tips for Making the Most of Your Doctor’s Visit: Make a list of your concerns before the visit, so you can get all of your questions answered during the visit. For exa...
What is X-Linked Hypophosphatemia (XLH)?X-linked hypophosphatemia (XLH) is an inherited disorder characterized by low levels of phosphate in the blood. These levels are low for those with XLH because phosphate is abnormally processed in the kidneys, which causes a loss of phosphate in the urine (phosphate wasting) and leads to soft, weak bones (rickets). XLH is usually diagnosed in childhood....
Clinical Manifestations in Adults With XLH Arise From:• New and continuing symptoms as a result of ongoing, active disease • Unresolved complications of XLH from childhood Several types of fractures, including insufficiency fractures and Looser zones, can develop as a consequence of long-term weight bearing on weakened bones. These manifestations commonly result in spontaneous insufficiency fracture...
Why is This Medication Prescribed?Burosumab-twza injection is used to treat X-linked hypophosphatemia (XLH; a rare, inherited form of rickets that causes poor bone growth and development) in adults and children one years of age and older. Burosumab-twza injection is in a class of medications called fibroblast growth factor 23 (FGF23) blocking antibodies. It works by blocking the action of a certain natural substance in t...

Dental Manifestations

International XLH Alliance
XLH patients can be affected by tooth abscesses in both deciduous and permanent dentition. The disease results in a diminished barrier to the exterior of the tooth, with cracks in the thin enamel, extended pulp horns, and abnormal formation of the dentine, allowing bacteria and infections to enter the tooth pulp chamber without any visible damage to the tooth. In an international online survey of parents/caregivers of 90 children with XL...
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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...

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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