Materiały źródłowe

• #1 Rickets Imaging: Practice Essentials, Radiography

  https://emedicine.medscape.com/article/412862-overview

  Vitamin D deficiency results in rickets in children with growing bones and causes osteomalacia in adults with completed growth and closed growth plates. By definition, rickets is found only in children before closure of the growth plates, while osteomalacia occurs in persons of any age. Any child with rickets also has osteomalacia, but the reverse is not necessarily true. […] The diagnosis of nutritional rickets is made on the basis of history, physical examination, and biochemical testing and is confirmed by radiographs. […] In more advanced stages of rickets, radiographic changes are pathognomonic; however, the underlying cause needs to be established using clinical and biochemical assessments. False-negative findings can occur in the early phase of disease.

• #2 Rickets – Symptoms, diagnosis and treatment | BMJ Best Practice

  https://bestpractice.bmj.com/topics/en-gb/635

  Rickets refers to changes caused by deficient mineralisation at the growth plate of long bones. Osteomalacia refers to impaired mineralisation of the bone matrix. Rickets and osteomalacia usually occur together while the growth plates are open. Rickets only occurs in growing children before fusion of the epiphyses; osteomalacia can occur after the growth plates have fused. […] Rickets can manifest in childhood at the distal forearm, knee, and costochondral joints, as these are sites of rapid bone growth, where large quantities of calcium and phosphorus are required for mineralisation. Characteristic features include widening of the bones at the wrists and knees, bowing of the legs, spine deformities, fractures, bone pain, and dental abnormalities. […] Key diagnostic factors include the presence of risk factors. Other diagnostic factors include bone pain, growth faltering, delayed achievement of motor milestones, bony deformities, muscle weakness, carpopedal spasm, numbness or paresthesias, tetany, and hypocalcaemic seizures.

• #3

  https://link.springer.com/article/10.1007/s00467-021-05328-w

  Rickets is a disease of the growing child arising from alterations in calcium and phosphate homeostasis resulting in impaired apoptosis of hypertrophic chondrocytes in the growth plate. […] The diagnosis of rickets is based on the presence of these typical clinical symptoms and radiological findings on X-rays of the wrist or knee, showing metaphyseal fraying and widening of growth plates, in conjunction with elevated serum levels of alkaline phosphatase. […] The diagnostic approach to rickets is primarily based on medical history, biochemical tests and radiography, which is followed, if necessary, by genetic tests. […] The diagnosis of rickets is based on typical clinical symptoms (e.g., widened wrists, frontal bossing, leg deformities, waddling gait, muscle weakness, and growth failure) and radiological findings (e.g., metaphyseal fraying and widening of growth plates) in the presence of elevated serum ALP levels.

• #4 Frontiers | Diagnosis, treatment, and management of rickets: a position statement from the Bone and Mineral Metabolism Group of the Italian Society of Pediatric Endocrinology and Diabetology

  https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2024.1383681/full

  Rickets results from impaired mineralization of growing bone due to alterations in calcium and phosphate homeostasis. Clinical signs of rickets are related to the age of the patient, the duration of the disease, and the underlying disorder. The primary method for diagnosing rickets involves examining the patient’s medical history, conducting biochemical tests, and performing radiologic examinations. Genetic analyses are particularly important in cases where patients are suspected to have a genetic form of rickets despite the absence of a family history of the disease. The aim of this document is to provide practical guidance to specialists and healthcare professionals about the main criteria for diagnosis, treatment, and management of patients with rickets. […] The diagnosis of rickets should be confirmed by radiologic examination. Medical history, physical examination, and the biochemical results are the main findings to diagnose a form of rickets.

• #5 Vitamin D Deficiency including Osteomalacia and Rickets

  https://patient.info/doctor/vitamin-d-deficiency-including-osteomalacia-and-rickets-pro

  The classic presentation is a child with bony abnormalities such as leg-bowing and knock knees. […] The differential diagnosis of generalised osteopenia includes hyperparathyroidism, osteitis fibrosa, Paget’s disease of bone and myeloma. […] Blood biochemistry: renal function, electrolytes (including serum calcium and phosphate), LFTs, parathyroid hormone (PTH) level. […] Vitamin D status is most reliably determined by assay of serum 25-hydroxyvitamin D (25-OHD). […] Vitamin D deficiency: individuals with symptomatic osteomalacia or rickets have serum 25-OHD concentrations of less than 25 nmol/L (10 micrograms/L). […] Check the vitamin D level by measuring serum 25-hydroxyvitamin D (25[OH]D) if a person has musculoskeletal symptoms that may be attributable to vitamin D deficiency, such as suspected bone disease that may be improved with vitamin D treatment, such as osteomalacia or osteoporosis.

• #6 Osteomalacia – Endocrinology Advisor

  https://www.endocrinologyadvisor.com/ddi/osteomalacia/

  Potential findings on physical examination include diffuse bone pain, progressive muscle weakness (mostly in proximal lower extremities), muscle wasting, myalgia, arthralgias, difficulty walking and/or a waddling gait, increased falls, hypocalcemic seizures, or tetany. Bone tenderness is an important finding, and is often present in the tibial shins. These symptoms develop gradually and are often initially attributed to other diseases (such as arthritis, rheumatism, fibromyalgia, myopathy, cancer), which can delay the diagnosis. […] The diagnostic workup for osteomalacia includes a physical examination, detailed medical and family history, laboratory testing, imaging, and bone biopsy. The patients history may reveal previous low-trauma or frequent fractures. It is important to evaluate the patients vitamin D and calcium intake, activity level, and amount of sun exposure, as these factors are critical for vitamin D production. Patients also should be assessed for symptoms of malabsorption because malabsorption of vitamin D and calcium can result in osteomalacia.

• #7 Rickets – Symptoms, diagnosis and treatment | BMJ Best Practice

  https://bestpractice.bmj.com/topics/en-gb/635

  Rickets refers to changes caused by deficient mineralisation at the growth plate of long bones. Osteomalacia refers to impaired mineralisation of the bone matrix. Rickets and osteomalacia usually occur together while the growth plates are open. Rickets only occurs in growing children before fusion of the epiphyses; osteomalacia can occur after the growth plates have fused. […] Rickets can manifest in childhood at the distal forearm, knee, and costochondral joints, as these are sites of rapid bone growth, where large quantities of calcium and phosphorus are required for mineralisation. Characteristic features include widening of the bones at the wrists and knees, bowing of the legs, spine deformities, fractures, bone pain, and dental abnormalities. […] Key diagnostic factors include the presence of risk factors. Other diagnostic factors include bone pain, growth faltering, delayed achievement of motor milestones, bony deformities, muscle weakness, carpopedal spasm, numbness or paresthesias, tetany, and hypocalcaemic seizures.

• #8

  https://link.springer.com/article/10.1007/s00467-021-05328-w

  Rickets is a disease of the growing child arising from alterations in calcium and phosphate homeostasis resulting in impaired apoptosis of hypertrophic chondrocytes in the growth plate. […] The diagnosis of rickets is based on the presence of these typical clinical symptoms and radiological findings on X-rays of the wrist or knee, showing metaphyseal fraying and widening of growth plates, in conjunction with elevated serum levels of alkaline phosphatase. […] The diagnostic approach to rickets is primarily based on medical history, biochemical tests and radiography, which is followed, if necessary, by genetic tests. […] The diagnosis of rickets is based on typical clinical symptoms (e.g., widened wrists, frontal bossing, leg deformities, waddling gait, muscle weakness, and growth failure) and radiological findings (e.g., metaphyseal fraying and widening of growth plates) in the presence of elevated serum ALP levels.

• #9 Nutritional Vitamin D deficiency rickets in children – Challenges in diagnosis, management, and prevention – Wadia Journal of Women and Child Health

  https://wjwch.com/nutritional-vitamin-d-deficiency-rickets-in-children-challenges-in-diagnosis-management-and-prevention/

  Nutritional rickets are characterized by under mineralization of the skeleton that leads to bone deformities and poor growth. […] Early features of rickets may be asymptomatic and may be missed without biochemical and radiological investigations. […] The diagnosis of rickets is usually based on clinical findings. […] Infants present with subtle skeletal signs such as frontal bossing and craniotabes (softening of the skull bones). […] Early changes in rickets may manifest as non-specific complaints with only associated biochemical changes in the absence of overt radiological changes. […] Hypocalcemic seizures may be the hallmark of severe calcium and/or VDD in infants. […] Older children usually have signs of a skeletal deformity such as short stature, genu valgum/varum, wrist widening, and rachitic rosary (beading at costochondral junctions).

• #10 Clinical manifestations, diagnosis, and treatment of osteomalacia in adults – UpToDate

  https://www.uptodate.com/contents/clinical-manifestations-diagnosis-and-treatment-of-osteomalacia

  The epidemiology and causes of osteomalacia also are reviewed separately. (See „Epidemiology and etiology of osteomalacia”.) […] Clinical findings — In early stages, osteomalacia is often asymptomatic. With progression, it can produce characteristic symptoms that are not specific to the underlying cause. These include diffuse bone and joint pain, muscle weakness, and difficulty walking. Symptoms may be insidious in onset. Many symptoms of osteomalacia can mimic other skeletal, rheumatologic, and systemic illnesses; diagnosis is often delayed and requires a high degree of clinical suspicion. […] Bone pain – Bone pain is usually most pronounced in the lower spine, pelvis, and lower extremities, as well as where fractures have occurred, and may be associated with tenderness to palpation. The pain is characterized as dull and aching and is aggravated by activity and weight bearing. Bone pain is not a feature of osteoporosis; bone pain in a patient with a history of fragility fracture(s) should raise concern that the underlying process is osteomalacia rather than osteoporosis.

• #11 Osteomalacia – Endocrinology Advisor

  https://www.endocrinologyadvisor.com/ddi/osteomalacia/

  Potential findings on physical examination include diffuse bone pain, progressive muscle weakness (mostly in proximal lower extremities), muscle wasting, myalgia, arthralgias, difficulty walking and/or a waddling gait, increased falls, hypocalcemic seizures, or tetany. Bone tenderness is an important finding, and is often present in the tibial shins. These symptoms develop gradually and are often initially attributed to other diseases (such as arthritis, rheumatism, fibromyalgia, myopathy, cancer), which can delay the diagnosis. […] The diagnostic workup for osteomalacia includes a physical examination, detailed medical and family history, laboratory testing, imaging, and bone biopsy. The patients history may reveal previous low-trauma or frequent fractures. It is important to evaluate the patients vitamin D and calcium intake, activity level, and amount of sun exposure, as these factors are critical for vitamin D production. Patients also should be assessed for symptoms of malabsorption because malabsorption of vitamin D and calcium can result in osteomalacia.

• #12 Clinical manifestations, diagnosis, and treatment of osteomalacia in adults – UpToDate

  https://www.uptodate.com/contents/clinical-manifestations-diagnosis-and-treatment-of-osteomalacia

  The epidemiology and causes of osteomalacia also are reviewed separately. (See „Epidemiology and etiology of osteomalacia”.) […] Clinical findings — In early stages, osteomalacia is often asymptomatic. With progression, it can produce characteristic symptoms that are not specific to the underlying cause. These include diffuse bone and joint pain, muscle weakness, and difficulty walking. Symptoms may be insidious in onset. Many symptoms of osteomalacia can mimic other skeletal, rheumatologic, and systemic illnesses; diagnosis is often delayed and requires a high degree of clinical suspicion. […] Bone pain – Bone pain is usually most pronounced in the lower spine, pelvis, and lower extremities, as well as where fractures have occurred, and may be associated with tenderness to palpation. The pain is characterized as dull and aching and is aggravated by activity and weight bearing. Bone pain is not a feature of osteoporosis; bone pain in a patient with a history of fragility fracture(s) should raise concern that the underlying process is osteomalacia rather than osteoporosis.

• #13 Frontiers | Diagnosis, treatment, and management of rickets: a position statement from the Bone and Mineral Metabolism Group of the Italian Society of Pediatric Endocrinology and Diabetology

  https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2024.1383681/full

  Serum calcium, phosphate, alkaline phosphatase, parathyroid hormone (PTH), and vitamin D metabolites are crucial biochemical parameters for the diagnosis of the various forms of rickets. The measurement of serum concentrations of vitamin D metabolites may indicate the pathogenesis of rickets in patients with hypocalcemic forms. […] The measurement of FGF23 may be useful to identify the FGF23-mediated from the non-FGF23-mediated hypophosphatemic disorders.

• #14 Osteomalacia Is Not a Single Disease

  https://www.mdpi.com/1422-0067/23/23/14896

  The clinical and/or radiological suspicion of a mineralization defect should guide the biochemical diagnostic workout to confirm the diagnosis and to establish the cause. […] When evaluating disorders of mineralization, a key analyte to be determined is ALP, in order to make diagnosis, estimate disease severity, and monitor the effect of therapy. […] The determination of serum (corrected) calcium, phosphate, PTH, 25(OH)D is mandatory. […] The assessment of 1,25(OH)2D helps in the differential diagnosis of FGF23-dependent conditions since an excess of FGF23 inhibits renal 1 alpha-hydroxylase and leads to levels of 1,25(OH)2D, often in the low-normal range or less frequently below. […] The measurement of FGF23, when available, is important in the differential diagnosis of osteomalacia.

• #15

  https://link.springer.com/article/10.1007/s00467-021-05328-w

  The biochemical workup is based on assessment of serum phosphate, (ionized) calcium, creatinine, bicarbonate, ALP, PTH, 25(OH)D, 1,25(OH)2D, plasma FGF23 (if available) and an assessment of the renal tubular function. […] The differential diagnosis of rickets can be straightforward, e.g., an infant presenting with typical clinical symptoms and a history of low calcium intake and lack of vitamin D prophylaxis suggests nutritional rickets, but can be tricky in a child with a rare case of hereditary rickets, especially when presenting with mild symptoms and concomitant decreased vitamin D levels, which is not uncommon. […] The use of the diagnostic algorithm based on patient history, clinical presentation, laboratory and imaging studies, as well as its pitfalls, are outlined in the following section.

• #16 Rickets – Symptoms, diagnosis and treatment | BMJ Best Practice

  https://bestpractice.bmj.com/topics/en-gb/635

  Diagnostic tests include x-ray of a long bone, serum calcium, serum inorganic phosphorus, serum parathyroid hormone level, 25-hydroxyvitamin D levels (calcidiol), alkaline phosphatase and liver function tests, serum creatinine and urea, and urinary calcium and phosphorus. […] Tests to consider include 1,25-dihydroxyvitamin D levels (calcitriol).

• #17 Rickets Workup: Approach Considerations, Serum Chemistry, Radiography

  https://emedicine.medscape.com/article/985510-workup

  Serum measurements in the workup for rickets may include the following: Calcium, Phosphorus, Alkaline phosphatase, Parathyroid hormone, 25-hydroxy vitamin D, 1,25-dihydroxyvitamin D. […] Radiography is indicated in patients with rickets. […] Early on in the course of rickets, the calcium (ionized fraction) is low. However, this level is often within the reference range at the time of diagnosis, as a consequence of increased parathyroid hormone secretion. […] Although calcidiol (25-hydroxy vitamin D) is low and parathyroid hormone is elevated, determining calcidiol and parathyroid hormone levels is typically not necessary in order to establish a diagnosis. […] The phosphorus level is invariably low for age, unless recent partial treatment or recent exposure to sunlight has occurred. Alkaline phosphatase levels are uniformly elevated. […] Generalized osteomalacia occurs (observed as osteopenia), with visible coarsening of trabeculae in contrast to the ground-glass osteopenia of scurvy.

• #18 FGF23-related hypophosphatemic rickets/osteomalacia: diagnosis and new treatment in: Journal of Molecular Endocrinology Volume 66 Issue 2 (2021)

  https://jme.bioscientifica.com/view/journals/jme/66/2/JME-20-0089.xml

  FGF23 is a phosphaturic hormone produced by bone. FGF23 reduces serum phosphate by suppressing proximal tubular phosphate reabsorption and intestinal phosphate absorption. […] These results indicate that FGF23 measurement is useful for the differential diagnosis of hypophosphatemia. Chemiluminescent enzyme immunoassay for FGF23 has been approved for clinical use in Japan. […] The characteristic biochemical features of patients with FGF23-related hypophosphatemic diseases are chronic hypophosphatemia, low tubular maximum transport of phosphate per glomerular filtration rate (TmP/GFR), low to low normal 1,25(OH)2D and high or high normal FGF23 levels. […] FGF23 levels seem to be useful for the diagnosis of FGF23-related hypophosphatemic diseases. We are proposing that intact FGF23 levels of more than 30 pg/mL by Kainos assay in patients with chronic hypophosphatemia indicate the presence of FGF23-related hypophosphatemic diseases. […] In addition, FGF23 levels completely discriminated these two diseases (Kubota et al. 2014).

• #19 Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia | Nature Reviews Nephrology

  https://www.nature.com/articles/s41581-019-0152-5

  In children, a diagnosis of X-linked hypophosphataemia (XLH) should be considered in the presence of clinical and/or radiological signs of rickets, impaired growth velocity and serum levels of phosphate below the age-related reference range associated with renal phosphate wasting and in the absence of vitamin D or calcium deficiency (grade B, moderate recommendation). […] In adults, the diagnosis of XLH should be considered in the presence or history of lower limb deformities, and/or clinical and/or radiological signs of osteomalacia (including pseudofractures, early osteoarthritis and enthesopathies) in the context of serum levels of phosphate below the age-related reference range associated with renal phosphate wasting (grade B, moderate recommendation). […] We recommend confirming the clinical diagnosis of XLH by genetic analysis of the PHEX gene in children and adults if feasible (grade B, moderate recommendation).

• #20 FGF23-related hypophosphatemic rickets/osteomalacia: diagnosis and new treatment in: Journal of Molecular Endocrinology Volume 66 Issue 2 (2021)

  https://jme.bioscientifica.com/view/journals/jme/66/2/JME-20-0089.xml

  FGF23 is a phosphaturic hormone produced by bone. FGF23 reduces serum phosphate by suppressing proximal tubular phosphate reabsorption and intestinal phosphate absorption. […] These results indicate that FGF23 measurement is useful for the differential diagnosis of hypophosphatemia. Chemiluminescent enzyme immunoassay for FGF23 has been approved for clinical use in Japan. […] The characteristic biochemical features of patients with FGF23-related hypophosphatemic diseases are chronic hypophosphatemia, low tubular maximum transport of phosphate per glomerular filtration rate (TmP/GFR), low to low normal 1,25(OH)2D and high or high normal FGF23 levels. […] FGF23 levels seem to be useful for the diagnosis of FGF23-related hypophosphatemic diseases. We are proposing that intact FGF23 levels of more than 30 pg/mL by Kainos assay in patients with chronic hypophosphatemia indicate the presence of FGF23-related hypophosphatemic diseases. […] In addition, FGF23 levels completely discriminated these two diseases (Kubota et al. 2014).

• #21 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Rickets-Diagnosis.aspx

  The earliest radiographic findings of rickets consist of slight axial widening at the growth plate, which is followed by a decrease in the density of the metaphyseal side of the growth plate. As the disease progresses, the widening of the growth plate increases, while the zone of provisional calcification becomes irregular. […] Classic radiographic findings are fraying and widening of the metaphysis, widening of the distal physis, and angular deformities of the arm and leg bones.

• #22 Rickets and Osteomalacia | Radiology Key

  https://radiologykey.com/rickets-and-osteomalacia/

  Having a common pathophysiologic basis resulting in histologic and gross morphologic changes, rickets and osteomalacia have similar radiologic manifestations. […] The earliest radiographic finding of rickets consists of slight axial widening at the growth plate followed by a decrease in the density of the metaphyseal side of the growth plate (zone of provisional calcification). […] The radiographic changes of rickets are best seen in the regions with the most active growth. […] Osteopenia, a decrease in the radiographic bone density, is a general and nonspecific finding in osteomalacia. […] Imaging Features of Osteomalacia: Looser zones or pseudofractures, the classic radiographic findings of osteomalacia are radiolucent bands perpendicular to the cortex that incompletely span the diameter of the bone.

• #23 Rickets – Wikipedia

  https://en.wikipedia.org/wiki/Rickets

  Rickets may be diagnosed with the help of: […] Diagnosis is generally based on blood tests finding a low calcium, low phosphorus, and a high alkaline phosphatase together with X-rays. […] Blood tests: Serum calcium may show low levels of calcium, serum phosphorus may be low, and serum alkaline phosphatase may be high from bones or changes in the shape or structure of the bones. This can show enlarged limbs and joints. […] A bone density scan may be undertaken. […] Radiography typically show widening of the zones of provisional calcification of the metaphyses secondary to unmineralized osteoid. Cupping, fraying, and splaying of metaphyses typically appears with growth and continued weight bearing. These changes are seen predominantly at sites of rapid growth, including the proximal humerus, distal radius, distal femur and both the proximal and the distal tibia. Therefore, a skeletal survey for rickets can be accomplished with anteroposterior radiographs of the knees, wrists, and ankles.

• #24 Nutritional Vitamin D deficiency rickets in children – Challenges in diagnosis, management, and prevention – Wadia Journal of Women and Child Health

  https://wjwch.com/nutritional-vitamin-d-deficiency-rickets-in-children-challenges-in-diagnosis-management-and-prevention/

  The classical changes include generalized osteopenia, subperiosteal bone resorption, widening (splaying), cupping, and fraying that lead to expansion of the growth plate. […] The management of nutritional rickets is essentially based on correcting the calcium deficiency state and normalizing the metabolic bone profile. […] All children being treated for rickets need supplemental calcium at a dose of 50 mg/kg/day up to a maximum of 500 mg/day, irrespective of serum calcium levels. […] Vitamin D treatment should be commenced in all children with nutritional rickets. […] Vitamin D treatment has been tried in different doses and regimes. […] A standardized schedule for the management of nutritional rickets with Vitamin D and calcium supplementation is a global challenge. […] The diagnosis and management of rickets is straightforward if appropriate history, clinical examination and investigations are undertaken; yet, it has its own challenges in India. […] The clinical presentation is usually late when significant skeletal deformities are visible. […] The control of nutritional deficiency disorders requires an inclusive approach toward the child and the family that addresses the dietary diversity and sociocultural milieu.

• #25 Rickets – Wikipedia

  https://en.wikipedia.org/wiki/Rickets

  Rickets may be diagnosed with the help of: […] Diagnosis is generally based on blood tests finding a low calcium, low phosphorus, and a high alkaline phosphatase together with X-rays. […] Blood tests: Serum calcium may show low levels of calcium, serum phosphorus may be low, and serum alkaline phosphatase may be high from bones or changes in the shape or structure of the bones. This can show enlarged limbs and joints. […] A bone density scan may be undertaken. […] Radiography typically show widening of the zones of provisional calcification of the metaphyses secondary to unmineralized osteoid. Cupping, fraying, and splaying of metaphyses typically appears with growth and continued weight bearing. These changes are seen predominantly at sites of rapid growth, including the proximal humerus, distal radius, distal femur and both the proximal and the distal tibia. Therefore, a skeletal survey for rickets can be accomplished with anteroposterior radiographs of the knees, wrists, and ankles.

• #26 Rickets and Osteomalacia | Radiology Key

  https://radiologykey.com/rickets-and-osteomalacia/

  Having a common pathophysiologic basis resulting in histologic and gross morphologic changes, rickets and osteomalacia have similar radiologic manifestations. […] The earliest radiographic finding of rickets consists of slight axial widening at the growth plate followed by a decrease in the density of the metaphyseal side of the growth plate (zone of provisional calcification). […] The radiographic changes of rickets are best seen in the regions with the most active growth. […] Osteopenia, a decrease in the radiographic bone density, is a general and nonspecific finding in osteomalacia. […] Imaging Features of Osteomalacia: Looser zones or pseudofractures, the classic radiographic findings of osteomalacia are radiolucent bands perpendicular to the cortex that incompletely span the diameter of the bone.

• #27 Osteomalacia – Wikipedia

  https://en.wikipedia.org/wiki/Osteomalacia

  Osteomalacia is a disease characterized by the softening of the bones caused by impaired bone metabolism primarily due to inadequate levels of available phosphate, calcium, and vitamin D, or because of resorption of calcium. The impairment of bone metabolism causes inadequate bone mineralization. […] The most common cause of osteomalacia is a deficiency of vitamin D, which is normally derived from sunlight exposure and, to a lesser extent, from the diet. The most specific screening test for vitamin D deficiency in otherwise healthy individuals is a serum 25(OH)D level. […] Biochemical features are similar to those of rickets. The major factor is an abnormally low vitamin D concentration in blood serum. Major typical biochemical findings include: Low serum and urinary calcium, Low serum phosphate, except in cases of renal osteodystrophy, Elevated serum alkaline phosphatase (due to an increase in compensatory osteoblast activity), Elevated parathyroid hormone (due to low calcium). […] Furthermore, a technetium bone scan will show increased activity (also due to increased osteoblasts).

• #28 Osteomalacia – Endocrinology Advisor

  https://www.endocrinologyadvisor.com/ddi/osteomalacia/

  Initial blood testing should include the following: 25-vitamin D; 1, 25-vitamin D; Calcium; Phosphate; Serum alkaline phosphatase; Serum parathyroid hormone (PTH); Serum electrolytes; Blood urea nitrogen; and Serum creatinine. Noninvasive imaging includes the following: Dual-energy X-ray absorptiometry; Quantitative computed tomography; Peripheral quantitative computed tomography; and Micromagnetic resonance imaging. […] Symptoms of osteomalacia particularly low-trauma fracture are nonspecific and can be seen in other bone disorders. Diseases that should be considered in the differential diagnosis include osteoporosis, Pagets disease of the bone, malignant diseases (especially multiple myeloma), primary hyperparathyroidism, and renal osteodystrophy, all of which are associated with low-trauma fractures.

• #29

  https://step2.medbullets.com/orthopedics/120527/rickets–osteomalacia

  A 6-year-old boy is brought to his pediatrician by his parents due to poor growth, weakness, and abnormal gait. On physical exam, there is bowing of the legs and tenderness upon palpation of the lower extremity. Laboratory testing is significant for a decreased serum calcium and phosphate levels and elevated parathyroid hormone and serum alkaline phosphatase levels. (Rickets secondary to vitamin D deficiency) […] Imaging: Radiography indication: perform in patients with a clinical presentation concerning for osteomalacia or rickets. […] Studies: Labs highly dependent on the cause, e.g., patients with vitamin D deficiency will have decreased 25-hydroxyvitamin D. […] Treatment: Medical treatment is directed against the underlying cause for example vitamin D supplementation indication in patients with vitamin D deficiency.

• #30 Osteomalacia in Adults: A Practical Insight for Clinicians

  https://www.mdpi.com/2077-0383/12/7/2714

  The term osteomalacia (OM) refers to a series of processes characterized by altered mineralization of the skeleton, which can be caused by various disorders of mineral metabolism. […] The diagnostic gold standard is the histomorphometry study of a bone sample without decalcification, in which a pathological increase in osteoid is observed: >10% osteoid in the cancellous bone area (normal <4%) and osteoid width >15 μm (normal 4–12 μm) if we use static parameters, and a decrease or absence of double labeling with tetracyclines if we use dynamic parameters (delay time in mineralization >100 days, normal: 9–20 days). […] The diagnosis of OM may be delayed or never made, making it necessary to take this relevant disease into account, despite the fact that the diagnostic gold standard is not usually available to most clinicians.

• #31 Osteomalacia – Endocrinology Advisor

  https://www.endocrinologyadvisor.com/ddi/osteomalacia/

  Osteomalacia Diagnosis The most accurate way to diagnose osteomalacia is via transiliac crest bone biopsy with double tetracycline labeling and histomorphometric assessment. However, this type of evaluation is only available at a limited number of laboratories and academic institutions. Osteomalacia diagnosis usually can be made from a combination of clinical, laboratory, and radiologic findings. […] According to Fukumoto et al, the diagnosis of osteomalacia requires evidence of: Hypophosphatemia or hypocalcemia; High serum bone-specific alkaline phosphatase; Bone pain or muscle weakness; Low bone mineral density (less than 80% of the young adult mean); and Imaging findings: multiple uptake zones by bone scintigraphy or radiographic evidence of Looser zones. Osteomalacia is a possible diagnosis if there is evidence of hypophosphatemia or hypocalcemia, high alkaline phosphatase, and 2 of the last 3 findings listed above.

• #32 Osteomalacia in Adults: A Practical Insight for Clinicians

  https://www.mdpi.com/2077-0383/12/7/2714

  The term osteomalacia (OM) refers to a series of processes characterized by altered mineralization of the skeleton, which can be caused by various disorders of mineral metabolism. […] The diagnostic gold standard is the histomorphometry study of a bone sample without decalcification, in which a pathological increase in osteoid is observed: >10% osteoid in the cancellous bone area (normal <4%) and osteoid width >15 μm (normal 4–12 μm) if we use static parameters, and a decrease or absence of double labeling with tetracyclines if we use dynamic parameters (delay time in mineralization >100 days, normal: 9–20 days). […] The diagnosis of OM may be delayed or never made, making it necessary to take this relevant disease into account, despite the fact that the diagnostic gold standard is not usually available to most clinicians.

• #33 Pathology Outlines – Rickets / osteomalacia

  https://www.pathologyoutlines.com/topic/bonerickets.html

  Defect in matrix mineralization due to Vitamin D disturbance (deficiency, abnormal metabolism or calcium deficiency) […] Diagnosis […] Biopsy of long bone or iliac crest

• #34

  https://link.springer.com/article/10.1007/s00467-021-05328-w

  The biochemical workup is based on assessment of serum phosphate, (ionized) calcium, creatinine, bicarbonate, ALP, PTH, 25(OH)D, 1,25(OH)2D, plasma FGF23 (if available) and an assessment of the renal tubular function. […] The differential diagnosis of rickets can be straightforward, e.g., an infant presenting with typical clinical symptoms and a history of low calcium intake and lack of vitamin D prophylaxis suggests nutritional rickets, but can be tricky in a child with a rare case of hereditary rickets, especially when presenting with mild symptoms and concomitant decreased vitamin D levels, which is not uncommon. […] The use of the diagnostic algorithm based on patient history, clinical presentation, laboratory and imaging studies, as well as its pitfalls, are outlined in the following section.

• #35 Osteomalacia – Endocrinology Advisor

  https://www.endocrinologyadvisor.com/ddi/osteomalacia/

  Initial blood testing should include the following: 25-vitamin D; 1, 25-vitamin D; Calcium; Phosphate; Serum alkaline phosphatase; Serum parathyroid hormone (PTH); Serum electrolytes; Blood urea nitrogen; and Serum creatinine. Noninvasive imaging includes the following: Dual-energy X-ray absorptiometry; Quantitative computed tomography; Peripheral quantitative computed tomography; and Micromagnetic resonance imaging. […] Symptoms of osteomalacia particularly low-trauma fracture are nonspecific and can be seen in other bone disorders. Diseases that should be considered in the differential diagnosis include osteoporosis, Pagets disease of the bone, malignant diseases (especially multiple myeloma), primary hyperparathyroidism, and renal osteodystrophy, all of which are associated with low-trauma fractures.

• #36 Rickets | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/rickets?lang=us

  Rickets, less commonly known as rachitis, refers to deficient mineralization of the growth plate in the pediatric population. In contrast, osteomalacia refers to deficient mineralization of the bone matrix, which co-occurs with rickets but can also occur even after growth plate closure, in adults 7. […] The onset and presentation of rickets depend on the etiology and degree of deficiency. Typically, in severe cases, rickets becomes apparent in the second year of life. […] The presentation is usually with skeletal changes (see below) and bone pain. […] The differential for leg bowing in children includes: developmental or congenital bowing, Blount disease, osteogenesis imperfecta, many others that are not usually a consideration (see leg bowing in children). […] The differential for a widening of the growth plate includes: Schmid-type metaphyseal chondrodysplasia, hypovitaminosis C (scurvy), delayed maturation due to illness, endocrine disturbances (growth hormone excess, hyperparathyroidism, hypothyroidism). […] Treatment requires correction of the metabolic imbalance. Only rarely is the orthopedic surgical intervention necessary to correct skeletal deformities.

• #37 Osteomalacia – Endocrinology Advisor

  https://www.endocrinologyadvisor.com/ddi/osteomalacia/

  Initial blood testing should include the following: 25-vitamin D; 1, 25-vitamin D; Calcium; Phosphate; Serum alkaline phosphatase; Serum parathyroid hormone (PTH); Serum electrolytes; Blood urea nitrogen; and Serum creatinine. Noninvasive imaging includes the following: Dual-energy X-ray absorptiometry; Quantitative computed tomography; Peripheral quantitative computed tomography; and Micromagnetic resonance imaging. […] Symptoms of osteomalacia particularly low-trauma fracture are nonspecific and can be seen in other bone disorders. Diseases that should be considered in the differential diagnosis include osteoporosis, Pagets disease of the bone, malignant diseases (especially multiple myeloma), primary hyperparathyroidism, and renal osteodystrophy, all of which are associated with low-trauma fractures.

• #38 Osteomalacia – Endocrinology Advisor

  https://www.endocrinologyadvisor.com/ddi/osteomalacia/

  The clinical presentation of osteoporosis is similar to that of osteomalacia, but the physical exam and laboratory findings (normal calcium, phosphate, and alkaline phosphatase levels in osteoporosis) can distinguish osteoporosis from osteomalacia. Bone histomorphometry on trans-iliac bone biopsy provides definite differentiation of osteomalacia from osteoporosis.

• #39 Osteomalacia – Endocrinology Advisor

  https://www.endocrinologyadvisor.com/ddi/osteomalacia/

  The clinical presentation of osteoporosis is similar to that of osteomalacia, but the physical exam and laboratory findings (normal calcium, phosphate, and alkaline phosphatase levels in osteoporosis) can distinguish osteoporosis from osteomalacia. Bone histomorphometry on trans-iliac bone biopsy provides definite differentiation of osteomalacia from osteoporosis.

• #40

  https://link.springer.com/article/10.1007/s00467-021-05328-w

  The biochemical workup is based on assessment of serum phosphate, (ionized) calcium, creatinine, bicarbonate, ALP, PTH, 25(OH)D, 1,25(OH)2D, plasma FGF23 (if available) and an assessment of the renal tubular function. […] The differential diagnosis of rickets can be straightforward, e.g., an infant presenting with typical clinical symptoms and a history of low calcium intake and lack of vitamin D prophylaxis suggests nutritional rickets, but can be tricky in a child with a rare case of hereditary rickets, especially when presenting with mild symptoms and concomitant decreased vitamin D levels, which is not uncommon. […] The use of the diagnostic algorithm based on patient history, clinical presentation, laboratory and imaging studies, as well as its pitfalls, are outlined in the following section.

• #41 Frontiers | Diagnosis, treatment, and management of rickets: a position statement from the Bone and Mineral Metabolism Group of the Italian Society of Pediatric Endocrinology and Diabetology

  https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2024.1383681/full

  Rickets results from impaired mineralization of growing bone due to alterations in calcium and phosphate homeostasis. Clinical signs of rickets are related to the age of the patient, the duration of the disease, and the underlying disorder. The primary method for diagnosing rickets involves examining the patient’s medical history, conducting biochemical tests, and performing radiologic examinations. Genetic analyses are particularly important in cases where patients are suspected to have a genetic form of rickets despite the absence of a family history of the disease. The aim of this document is to provide practical guidance to specialists and healthcare professionals about the main criteria for diagnosis, treatment, and management of patients with rickets. […] The diagnosis of rickets should be confirmed by radiologic examination. Medical history, physical examination, and the biochemical results are the main findings to diagnose a form of rickets.

• #42 Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia | Nature Reviews Nephrology

  https://www.nature.com/articles/s41581-019-0152-5

  In children, a diagnosis of X-linked hypophosphataemia (XLH) should be considered in the presence of clinical and/or radiological signs of rickets, impaired growth velocity and serum levels of phosphate below the age-related reference range associated with renal phosphate wasting and in the absence of vitamin D or calcium deficiency (grade B, moderate recommendation). […] In adults, the diagnosis of XLH should be considered in the presence or history of lower limb deformities, and/or clinical and/or radiological signs of osteomalacia (including pseudofractures, early osteoarthritis and enthesopathies) in the context of serum levels of phosphate below the age-related reference range associated with renal phosphate wasting (grade B, moderate recommendation). […] We recommend confirming the clinical diagnosis of XLH by genetic analysis of the PHEX gene in children and adults if feasible (grade B, moderate recommendation).

• #43 Rickets – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/rickets/diagnosis-treatment/drc-20351949

  During the exam, the healthcare professional typically will gently press on your child’s bones, checking for irregularities. […] Diagnosing rickets in babies can be challenging. Rickets may be harder to identify as bone and muscle changes often are not detected until a child starts to walk. Your healthcare professional likely will pay attention to if your baby is growing well, has regular breathing sounds and has typical muscle tone. […] For children of all ages, X-rays of the affected bones can reveal bone deformities. Blood and urine tests can confirm a diagnosis of rickets and also monitor the progress of treatment.

• #44 Nutritional Vitamin D deficiency rickets in children – Challenges in diagnosis, management, and prevention – Wadia Journal of Women and Child Health

  https://wjwch.com/nutritional-vitamin-d-deficiency-rickets-in-children-challenges-in-diagnosis-management-and-prevention/

  Nutritional rickets are characterized by under mineralization of the skeleton that leads to bone deformities and poor growth. […] Early features of rickets may be asymptomatic and may be missed without biochemical and radiological investigations. […] The diagnosis of rickets is usually based on clinical findings. […] Infants present with subtle skeletal signs such as frontal bossing and craniotabes (softening of the skull bones). […] Early changes in rickets may manifest as non-specific complaints with only associated biochemical changes in the absence of overt radiological changes. […] Hypocalcemic seizures may be the hallmark of severe calcium and/or VDD in infants. […] Older children usually have signs of a skeletal deformity such as short stature, genu valgum/varum, wrist widening, and rachitic rosary (beading at costochondral junctions).

• #45 Vitamin D Deficiency including Osteomalacia and Rickets

  https://patient.info/doctor/vitamin-d-deficiency-including-osteomalacia-and-rickets-pro

  If vitamin D deficiency or insufficiency is diagnosed following blood testing, consider additional investigations: Bone profile (calcium, phosphate, and alkaline phosphatase) and parathyroid hormone (PTH) level: to assess for a disorder of bone mineralisation, such as osteomalacia. […] In children with low vitamin D levels identified, a wrist X-ray is required to diagnose rickets. […] The treatment of vitamin D deficiency includes: Education: dietary advice (refer to a dietician). […] Oral vitamin D3 is the vitamin D preparation of choice for the treatment of vitamin D deficiency, and vitamin D2 is an alternative option in some clinical situations. […] Seek specialist advice or arrange referral before starting vitamin D treatment if a child has clinical features of rickets, or a child has hypocalcaemia. […] Once vitamin D deficiency has been treated, prevention is required to prevent recurrence.

• #46 Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia | Nature Reviews Nephrology

  https://www.nature.com/articles/s41581-019-0152-5

  We recommend that non-selective renal tubular phosphate wasting (which suggests renal Fanconi syndrome) should be excluded by looking for abnormal bicarbonate, amino acid, glucose and/or uric acid losses in urines and low molecular mass proteinuria (grade B, moderate recommendation). […] We recommend other causes of hereditary or acquired hypophosphataemia be considered if analysis of the PHEX gene yield a negative result for XLH (grade B, moderate recommendation).

• #47 Rickets: Definition, Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/22459-rickets

  Rickets is a childhood disease where your childs bones are too soft, causing their bones to warp, bend and break more easily. […] Rickets is different from osteomalacia, which is a similar condition seen in adults. […] There are several ways to diagnose rickets. If your childs pediatrician suspects rickets based on a physical exam or symptoms, they may order one or more of the following tests: X-rays, Blood testing, Urine testing, Bone biopsies (very rarely done), Genetic testing (for inherited rickets). […] Yes, most cases of rickets (especially nutritional rickets) are curable when caught early. […] While rickets is a treatable and often curable disease, its important to treat it as soon as possible. […] Yes, nutritional rickets can be prevented. […] If your child complains of or shows any of the symptoms listed above, especially widening of their wrists in children who can crawl, or bowing of their legs in children old enough to walk.

• #48 Rickets: Definition, Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/22459-rickets

  Nutritional rickets can be treated in weeks or months, depending on the severity of the case. Most symptoms like weakness or pain should improve within a few weeks. […] For children with nutritional rickets, the outlook is typically good. With treatment, their condition should resolve in a matter of weeks or months.

• #49

  https://journals.lww.com/sjkd/fulltext/2013/24050/clinical_presentation_and_etiology_of.7.aspx

  In our study, it was noted that in patients who developed secondary osteomalacia due to steroids or anticonvulsants, the diagnosis was often missed and the patients were not given vitamin D or calcium supplements. […] We recommend that a more detailed and comprehensive study be considered to confirm our findings in the assessment of the dietary intake of vitamin D and sun exposure in relation to the onset of osteomalacia. […] We advise that all patients on either anticonvulsants or steroids be screened periodically for osteomalacia and, if they are at a high risk, should be started on vitamin D and calcium supplements as prophylaxis.

• #50 Rickets: Definition, Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/22459-rickets

  Nutritional rickets can be treated in weeks or months, depending on the severity of the case. Most symptoms like weakness or pain should improve within a few weeks. […] For children with nutritional rickets, the outlook is typically good. With treatment, their condition should resolve in a matter of weeks or months.

• #51

  https://journals.lww.com/sjkd/fulltext/2013/24050/clinical_presentation_and_etiology_of.7.aspx

  In our study, it was noted that in patients who developed secondary osteomalacia due to steroids or anticonvulsants, the diagnosis was often missed and the patients were not given vitamin D or calcium supplements. […] We recommend that a more detailed and comprehensive study be considered to confirm our findings in the assessment of the dietary intake of vitamin D and sun exposure in relation to the onset of osteomalacia. […] We advise that all patients on either anticonvulsants or steroids be screened periodically for osteomalacia and, if they are at a high risk, should be started on vitamin D and calcium supplements as prophylaxis.

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