Metabolic bone disease refers to a variety of disorders associated with disturbances of bone homeostasis and physiological remodeling processes. These disorders comprise osteoporosis and Paget's disease, among others.
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  . 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 . 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.
Entire Body System
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]
He had no lymphadenopathy or organomegaly. 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]
Jaw & Teeth
Osteomalacia and osteoporosis are commonly observed in patients who have had partial gastric resections for treatment of peptic ulcer disease. [ncbi.nlm.nih.gov]
Generalised weakness, urolithiasis, peptic ulcer disease, pancreatitis, bone and joint pain. 40% have skeletal abnormality on XR. [radnotes.co.nz]
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]
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 
- Genetic screening to identify hereditary MBD
- Scintigraphy 
- Bone biopsy and histopathological examination of obtained specimens
This also applies in the case of other symptoms or incidental findings consistent with MBD.
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]
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]
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]
Drake and Sundeep Khosla 44 Translational Genetics of Osteoporosis: From Population Association to Individualized Prognosis 376 Bich H. Tran, Jacqueline R. Center, and Tuan V. Nguyen 45 Prevention of Falls 389 Heike A. [wiley.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]
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]
[…] 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]
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]
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  , 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 . In this context, diseases like hypo-/hyperparathyroidism, Cushing's disease , celiac disease, inflammatory bowel disease , 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.
- Masi L, Brandi ML. Gaucher disease: the role of the specialist on metabolic bone diseases. Clin Cases Miner Bone Metab. 2015;12(2):165-169.
- Le Merrer M, Orcel P. Orphan musculoskeletal and metabolic bone diseases. Best Pract Res Clin Rheumatol. 2008;22(1):1-2.
- Bours SP, van Geel TA, Geusens PP, et al. Contributors to secondary osteoporosis and metabolic bone diseases in patients presenting with a clinical fracture. J Clin Endocrinol Metab. 2011;96(5):1360-1367.
- Kaltsas G, Makras P. Skeletal diseases in Cushing's syndrome: osteoporosis versus arthropathy. Neuroendocrinology. 2010;92 Suppl 1:60-64.
- Wada Y, Hisamatsu T, Naganuma M, et al. Risk factors for decreased bone mineral density in inflammatory bowel disease: A cross-sectional study. Clin Nutr. 2015;34(6):1202-1209.
- Chang CY, Rosenthal DI, Mitchell DM, Handa A, Kattapuram SV, Huang AJ. Imaging Findings of Metabolic Bone Disease. Radiographics. 2016;36(6):1871-1887.
- Kirkland JD, O'Brien WT. Osteopetrosis - Classic Imaging Findings in the Spine. J Clin Diagn Res. 2015;9(8):Tj01-02.
- Lalam RK, Cassar-Pullicino VN, Winn N. Paget Disease of Bone. Semin Musculoskelet Radiol. 2016;20(3):287-299.
- Heilmeier U, Youm J, Torabi S, Link TM. Osteoporosis Imaging in the Geriatric Patient. Curr Radiol Rep. 2016;4(4).
- Cook GJ, Gnanasegaran G, Chua S. Miscellaneous indications in bone scintigraphy: metabolic bone diseases and malignant bone tumors. Semin Nucl Med. 2010;40(1):52-61.