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]

• Sparse Hair

  Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by poikiloderma, small stature, sparse hair, skeletal abnormalities, increased risk of osteosarcoma, and decreased bone mass. [ncbi.nlm.nih.gov]

• Sparse Hair

  Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by poikiloderma, small stature, sparse hair, skeletal abnormalities, increased risk of osteosarcoma, and decreased bone mass. [ncbi.nlm.nih.gov]

• 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]

• Distractibility

  In addition, six femora in three patients were subsequently lengthened by distraction osteogenesis. The mean follow-up was 60 months (18 to 120). [ncbi.nlm.nih.gov]

  Banana/chalkstick fractures – transverse distraction insufficiency fractures on covexity of deformed bone. Shephard’s crook deformity – varus proximal femur. Overingestion of fluoride, vitamin A or D. [radnotes.co.nz]

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.

• Rugger-Jersey Spine

  Renal osteodystrophy is the collection of skeletal findings observed in patients with chronic renal failure and associated secondary hyperparathyroidism and can include osteopenia, osteosclerosis, and "rugger jersey spine." [ncbi.nlm.nih.gov]

  Areas of demineralisation and osteosclerosis (esp vertebral endplates = rugger jersey spine, may be diffuse. Profuse soft tissue calcifications including vascular and para-articular (may be milk of calcium, may be massive = tumoral calcinosis). [radnotes.co.nz]

• Delayed Bone Age

  Thyroid hormone regulates endochondral bone formation; and congenital hypothyroidism, when untreated, leads to delayed bone age and absent, irregular, or fragmented distal femoral and proximal tibial epiphyses. [ncbi.nlm.nih.gov]

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]

Paget's disease (osteitis deformans), an MBD of unknown etiology characterized by focal disturbances of osteoblast and osteoclast activity. [symptoma.com]

[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]

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

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]

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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