A considerable share of MBD patients remains asymptomatic for prolonged periods of time. Here, diagnostic measures like blood sample analyses or radiography carried out for non-related reasons may yield findings consistent with MBD.

On the other hand, MBD diminishes the resistance of osseous structures and patients may present with pathological fractures. In this context, plain radiographic images are usually obtained to visualize fracture lines and displacement, to evaluate the involvement of joints and other anatomical structures. In MBD patients, such images may reveal pronounced anomalies like alterations of bone density. A general reduction or an overall increase of bone mineralization may be observed, for instance, in osteoporosis and osteopetrosis patients, respectively [6] [7]. Alternatively, changes in bone density may be restricted to determined areas. Foci of diminished bone density may be noted in images that also depict areas of enhanced mineralization, e.g., in patients suffering from Paget's disease [8]. Of note, bones of reduced mechanical resistance may succumb to acting forces without breaking. Consequently, MBD patients may present with slowly progressive skeletal deformities hindering their everyday life. Bone pain, secondary arthritis, arthralgia and reduced range of joint motion are commonly described symptoms.

Because the skeleton plays a primordial role in calcium and phosphate homeostasis, MBD patients frequently suffer from alterations of serum electrolyte levels and corresponding clinical symptoms. In otherwise asymptomatic patients, hypocalcemia, hypercalcemia, hypophosphatemia, and hyperphosphatemia may constitute first indicators of MBD.

• Anemia

  The only hematological abnormality was moderate anemia, which prompted bone marrow studies leading to a diagnosis of acute lymphoblastic leukemia (ALL). [ncbi.nlm.nih.gov]

  Fanconi's anemia or associated with a viral infection with parvo virus. Iron deficiency anemias Iron deficiency anemias lead to the formation of deformed and smaller RBCs released from the marrow. [news-medical.net]

  Enzymatic amplification of β-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science 1985; 230: 1350-4. PMID: 2999980. 10. Donis-Keller H, et al. A genetic linkage map of the human genome. [molcom.jp]

• Abdominal Pain

  Common symptoms of hyperparathyroidism can include: Increased thirst and urination Kidney stones Abdominal pain Nausea Vomiting Osteoporosis Hypoparathyroidism Hypoparathyroidism is a condition caused by an underproduction of parathyroid hormone (PTH) [washendo.com]

  Common symptoms of hyperparathyroidism with hypercalcemia (when they do occur) include increased thirst, increased frequency of urination, abdominal pain, muscle and bone pain, nausea and vomiting. [decorlando.com]

• Nausea

  Common symptoms of hyperparathyroidism can include: Increased thirst and urination Kidney stones Abdominal pain Nausea Vomiting Osteoporosis Hypoparathyroidism Hypoparathyroidism is a condition caused by an underproduction of parathyroid hormone (PTH) [washendo.com]

  Common symptoms of hyperparathyroidism with hypercalcemia (when they do occur) include increased thirst, increased frequency of urination, abdominal pain, muscle and bone pain, nausea and vomiting. [decorlando.com]

• Vomiting

  Common symptoms of hyperparathyroidism can include: Increased thirst and urination Kidney stones Abdominal pain Nausea Vomiting Osteoporosis Hypoparathyroidism Hypoparathyroidism is a condition caused by an underproduction of parathyroid hormone (PTH) [washendo.com]

  Common symptoms of hyperparathyroidism with hypercalcemia (when they do occur) include increased thirst, increased frequency of urination, abdominal pain, muscle and bone pain, nausea and vomiting. [decorlando.com]

• Dry Hair

  It can cause symptoms including cataracts, dry hair, abdominal discomfort, scaly skin, muscle cramps and seizures. To diagnose hypoparathyroidism, your doctor will perform blood and urine tests to measure the levels of various minerals and PTH. [washendo.com]

  If the parathyroid glands do not secrete a sufficient quantity of PTH, the amount of calcium and phosphorus in the body can become severely unbalanced, resulting in problems including cataracts, dry hair, abdominal discomfort, scaly skin, muscle cramps [decorlando.com]

• Osteoporosis

  KEYWORDS: Bone Health ECHO; Project ECHO; emerging; osteoporosis; treatment [ncbi.nlm.nih.gov]

  Osteoporosis :: Metabolic Bone Disease Osteoporosis The term osteoporosis means porous bones. Osteoporosis is a metabolic disorder characterized by progressive loss of bone mass making the bones increasingly weak and prone to fractures. [animedicalgroup.com]

• Bone Disorder

  Metabolic bone disease is an umbrella term referring to abnormalities of bones caused by a broad spectrum of disorders. [en.wikipedia.org]

  We hypothesize that some of the classical metaphyseal lesions were artifacts or represent metabolic bone disorders that were not considered and that these two non-traumatic explanations may have been the basis of the abnormal bone findings. [ncbi.nlm.nih.gov]

  Metabolic bone disease or MBD refers to a large spectrum of bone disorders, usually caused by mineral abnormalities such as calcium, phosphorus, magnesium or vitamin D. [cortho.org]

• Muscle Weakness

  This condition often leads to a dull aching pain, muscle weakness and an increased risk of fractures, especially within the ribs, spine and legs. [washendo.com]

  A vitamin D deficiency can cause such symptoms as bone pain and muscle weakness, but for many people the symptoms are subtle. [decorlando.com]

  Together with profound muscle weakness, respiratory lethality is a frequent consequence.” [outlook.wustl.edu]

  […] pain fractures of long bones, ribs and vertebrae proximal muscle weakness weakness fatigue Physical exam inspection waddling gait from hip pain and thigh weakness difficulty rising from chair and climbing stairs Imaging Radiographs findings Bone scan [orthobullets.com]

• Myalgia

  Patients reported fatigue, myalgias, and arthralgias. They had symptoms for many months or years before the correct diagnosis was established. [ncbi.nlm.nih.gov]

• Paresis

  Tremors, muscular fasciculations, paresis and seizures usually develop in more severe cases of MBD with developed hypocalcaemia. However in most cases, calcium and phosphate levels usually appear normal. [en.wikivet.net]

• Unable to Walk

  Many more people are unable to walk or get about unassisted after a major fracture. Certain risk factors for osteoporosis are not modifiable and cannot be changed. These include genetic factors (for example if a parent had a hip fracture). [hss.edu]

• Tingling

  Depending on the type and severity of the condition, patients may also feel tingling, numbness or stiffness. If a patient has no symptoms, treatment may not be required. [decorlando.com]

At first glance, pathological fractures may not be distinguished from traumatic lesions. Thus, it is important to carry out additional studies to confirm whether the patient suffers from an underlying disorder rendering them prone to bone fractures, particularly if there is no apparent relation between traumatic insult and fracture, or if patients repeatedly present with fractures. Anamnestic data should be considered when deciding to undertake either of the following measures:

• Laboratory analyses of blood samples to determine serum electrolyte levels and additional parameters
• Bone mineral density measurements [9]
• Genetic screening to identify hereditary MBD
• Scintigraphy [10]
• Bone biopsy and histopathological examination of obtained specimens

This also applies in the case of other symptoms or incidental findings consistent with MBD.

• Nephrolithiasis

  Whyte Section IX: Approach to Nephrolithiasis 843 Section Editor Rajesh V. Thakker 102 Renal Tubular Physiology of Calcium Excretion 845 Peter A. Friedman and David A. Bushinsky 103 Epidemiology of Nephrolithiasis 856 Murray J. [wiley.com]

  Scheinman SJ, Tenenhouse HS (2003) Nephrolithiasis, osteoporosis, and mutations in the type 2a sodium-phosphate cotransporter. N Engl J Med 348: 264–265; author reply 264–265 PubMed Google Scholar 155. [link.springer.com]

  Scheinman SJ, Tenenhouse HS (2003) Nephrolithiasis, osteoporosis, and mutations in the type 2a sodium-phosphate cotransporter. N Engl J Med 348: 264–265; author reply 264–265 PubMed 155. [springermedizin.de]

• Hypophosphatemia

  Phosphate-binding substances such as aluminum-containing antacids can bind large amounts of phosphorus, causing hypophosphatemia and MBD. [ncbi.nlm.nih.gov]

  For example, genetic or hereditary hypophosphatemia may cause the metabolic bone disorder osteomalacia. [en.wikipedia.org]

  Burosumab Therapy in Children with X-Linked Hypophosphatemia. N Engl J Med. 2018 May 24;378(21):1987-1998. [maladiesrares-paris-saclay.aphp.fr]

  X-linked hypophosphatemia (XLH) Many patients have a form of rickets called X-linked hypophosphatemia (XLH). This is the most common form of inherited rickets, which causes soft bones, bowing of the legs and short stature. [shrinershospitalsforchildren.org]

• Hypophosphatemia

  Phosphate-binding substances such as aluminum-containing antacids can bind large amounts of phosphorus, causing hypophosphatemia and MBD. [ncbi.nlm.nih.gov]

  For example, genetic or hereditary hypophosphatemia may cause the metabolic bone disorder osteomalacia. [en.wikipedia.org]

  Burosumab Therapy in Children with X-Linked Hypophosphatemia. N Engl J Med. 2018 May 24;378(21):1987-1998. [maladiesrares-paris-saclay.aphp.fr]

  X-linked hypophosphatemia (XLH) Many patients have a form of rickets called X-linked hypophosphatemia (XLH). This is the most common form of inherited rickets, which causes soft bones, bowing of the legs and short stature. [shrinershospitalsforchildren.org]

The purpose of this review is to give an overview of the pathogenesis and treatment of posttransplant MBD in children. [ncbi.nlm.nih.gov]

The use of speed of sound (SOS) ultrasonography and dual-energy X-ray absorptiometry (DXA) in the diagnosis, management, and prognosis also is discussed. [neoreviews.aappublications.org]

What is the prognosis for infants diagnosed with metabolic bone disease? Once diagnosis and treatment begin, babies can often live normal, healthy lives without any issues later in life. [baby.lovetoknow.com]

Also Read: Metabolic Acidosis: Causes, Symptoms, Diagnosis, Treatment, Prognosis, Prevention Metabolic Disorders Information Center: Tyrosinemia, Gaucher's Disease, Obesity, Lead Poisoning, Type 1 Diabetes or Juvenile Diabetes [epainassist.com]

The prognosis is poor in advanced cases. Allopurinol is effective at reducing blood uric acid levels. Drug administration usually must be longterm, because signs typically recur if treatment is discontinued. [merckvetmanual.com]

If treatment is given in a timely manner and the apporpriate husbandry changes are made and maintained, the prognosis for patients with mild MBD is very good .Reptiles affected generally respond well to treatment, and a large proportion of patients see [avianandexoticvets.com]

The etiology of pathologic bone alterations in gastrointestinal disease is multifactorial. [ncbi.nlm.nih.gov]

[email protected]. 2 Department of Radioisotopes, CHU Brugmann, Université Libre de Bruxelles, Brussels, Belgium. 3 Department of Public Health, Epidemiology and Health Economics, University of Liège, Liège, Belgium. 4 Department of Nephrology [ncbi.nlm.nih.gov]

[…] metabolic bone disease where defective mineralization results in a large amount or unmineralized osteoid qualitative defect as opposed to a quanitative defect like osteoporosis rickets and osteomalacia are manifestations of the same pathologic process Epidemiology [orthobullets.com]

Bushinsky 103 Epidemiology of Nephrolithiasis 856 Murray J. Favus 104 Diagnosis and Evaluation of Nephrolithiasis 860 Stephen J. Knohl and Steven J. Scheinman 105 Kidney Stones in the Pediatric Patient 869 Amy E. Bobrowski and Craig B. [wiley.com]

Braun J (2001) Epidemiology of corticosteroid-induced osteoporosis. Z Rheumatol 60: 107–110 PubMed Google Scholar 20. [link.springer.com]

In order to gain insight into the relationship between sleep and bone, we review the growing information on OSA and metabolic bone disease and discuss the pathophysiological mechanisms by which OSA may affect bone metabolism/architecture. © 2015 American [ncbi.nlm.nih.gov]

The aim of this review is to discuss the pathophysiology, diagnosis, prevention, and treatment of metabolic bone disease. [neoreviews.aappublications.org]

Christopher Gallagher 77 Pathophysiology of Chronic Kidney Disease Mineral Bone Disorder (CKD–MBD) 632 Keith A. Hruska and Michael Seifert 78 Treatment of Chronic Kidney Disease Mineral Bone Disorder (CKD–MBD) 640 Hala M. Alshayeb and L. [wiley.com]

The recognition, evaluation, treatment, and prevention of these conditions will be discussed after a brief description of normal bone metabolism. [ncbi.nlm.nih.gov]

Our goal is to evaluate patients at an early stage to prevent the major complication of osteoporosis (fractures), and treat patients at the earliest possible stage to prevent additional disease manifestations. [my.clevelandclinic.org]

These UVB light bulbs are essential in helping to prevent metabolic bone disease in reptiles. [beardeddragoncare101.com]

Metabolic bone disease (MBD) is a general term that may refer to distinct entities associated with disturbances of anabolic and catabolic processes, bone homeostasis and remodeling. Even though an exhaustive list of MBD is not available currently [1] [2], the following pathologies can be named exemplary:

• Hypophosphatasia, a hereditary disorder resulting in reduced activity of alkaline phosphatase and insufficient bone mineralization.
• Osteopetrosis, a hereditary disease associated with impaired osteoclastic bone resorption.
• Osteoporosis, a common MBD caused by imbalances between bone formation and bone resorption.
• Paget's disease (osteitis deformans), an MBD of unknown etiology characterized by focal disturbances of osteoblast and osteoclast activity.
• Rickets and osteomalacia, most commonly caused by vitamin D deficiency and associated with insufficient bone mineralization.

Bone metabolism is highly dependent on endocrinological factors such as thyroid, parathyroid, adrenal and gonadal hormone release and on the availability of electrolytes [3]. In this context, diseases like hypo-/hyperparathyroidism, Cushing's disease [4], celiac disease, inflammatory bowel disease [5], and renal tubular acidosis may provoke secondary MBD.

MBD treatment depends on the underlying disorder. In general, physical therapy is indicated to stimulate muscle gain. This approach is usually complemented with dietary adjustments and medication. Some conditions may also require surgical management.

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