What does ADHR mean in MEDICAL
Autosomal Dominant Hypophosphatemic Rickets (ADHR) is a rare genetic disorder that affects the bones and teeth. It is caused by mutations in the gene SLC34A3 and primarily affects individuals of African, Hispanic, or Caribbean ancestry. ADHR is characterized by specifically low levels of phosphate, which is an important mineral for maintaining normal bone structure and strength. Without proper treatment, people with ADHR can develop mild to severe skeletal deformities, dental problems and short stature.
ADHR meaning in Medical in Medical
ADHR mostly used in an acronym Medical in Category Medical that means Autosomal Dominant Hypophosphatemic Rickets
Shorthand: ADHR,
Full Form: Autosomal Dominant Hypophosphatemic Rickets
For more information of "Autosomal Dominant Hypophosphatemic Rickets", see the section below.
Symptoms
The symptoms of Autosomal Dominant Hypophosphatemic Rickets can vary from person to person depending on the severity of the condition and age at diagnosis. Common symptoms include weak bones, bowed legs, curvature of the spine (scoliosis), stunted growth (dwarfism), delayed or defective tooth eruption, poor dental health, muscle weakness and frequent fractures or broken bones. Symptoms may also include abnormal bone shape or size (bowing) along with pain in the affected areas.
Diagnosis & Treatment
ADHR is often diagnosed clinically based on medical history and physical examination findings such as abnormal skeletal deformities, short stature, poor dental health or hypophosphatemia on laboratory testing. A genetic test may be performed to confirm the diagnosis if needed. Treatment typically includes medications such as calcium supplements and active forms of vitamin D to help increase phosphate levels in the body and promote healthy bone development. In severe cases surgery may be necessary to correct any skeletal deformities caused by ADHR. Regular monitoring of skeletal health along with lifestyle modifications such as avoiding dehydration can also help manage symptoms and improve quality of life for those living with ADHR.
Essential Questions and Answers on Autosomal Dominant Hypophosphatemic Rickets in "MEDICAL»MEDICAL"
What is Autosomal Dominant Hypophosphatemic Rickets?
Autosomal Dominant Hypophosphatemic Rickets (ADHR) is an inherited form of rickets that causes low levels of phosphate in the blood and softening of the bones. It is caused by a genetic mutation, so it runs in families. Symptoms typically present between early childhood and late adolescence and can include bowed legs, short stature, frequent fractures, intellectual disability, and stunted growth.
What causes ADHR?
ADHR is genetically inherited as an autosomal dominant trait. This means that a person who has one mutated gene from one parent will have the condition.
How is ADHR diagnosed?
ADHR is diagnosed with genetic testing or a physical exam to look for skeletal deformities and other signs associated with rickets such as bowlegs or knock-knees. Blood tests are also done to measure levels of phosphorus and alkaline phosphatase which are hallmark indicators of the condition.
Is there a cure for ADHR?
Unfortunately, there is no cure for ADHR at this time. Treatment focuses on managing symptoms through lifestyle changes such as increasing activity levels and consuming foods high in calcium and phosphorus to keep bone health healthy.
Are there any long-term effects from having ADHR?
While some patients may experience no long-term effects from having ADHR, those who do may experience difficulties with mobility due lack of muscle tone or joint pain caused by weakening of bones. Over time this could lead to osteoporosis or other bone disease later on in life.
How does diet affect someone with ADHR?
Patients with ADHR should maintain a well balanced diet that includes foods rich in calcium and vitamin D as these two nutrients are essential for proper bone development. Additionally, avoiding excessive animal proteins can help reduce the amount of phosphorus being absorbed which can exacerbate symptoms.
Are there any treatments for people with severe cases of ADHR?
For individuals with severe cases, medical intervention may be necessary in order to manage symptoms effectively. This type of treatment typically involves using pharmaceutical agents such as phosphate binders or calcitriol which helps regulate calcium absorption rates.
Final Words:
Autosomal Dominant Hypophosphatemic Rickets is a rare genetic disorder that affects many aspects of an individual’s overall health including their bones, teeth and growth rate. It is important for individuals who are suspected to have this condition to seek prompt diagnosis so that they can receive proper management through medications or surgery when necessary in order to maintain optimum health status.