Rickets
Disease Details
Family Health Simplified
- Description
- Rickets is a disease in children characterized by softening and weakening of the bones, usually due to prolonged vitamin D deficiency.
- Type
- Rickets is primarily classified as a skeletal disorder. The most common form, nutritional rickets, is caused by a deficiency in vitamin D, calcium, or phosphate. Genetic forms of rickets, such as X-linked hypophosphatemic rickets, can be inherited. X-linked hypophosphatemic rickets follows an X-linked dominant pattern of genetic transmission. Other rarer genetic forms of rickets can follow autosomal recessive or autosomal dominant inheritance patterns.
- Signs And Symptoms
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Signs and symptoms of dietary deficiency rickets can include bone tenderness, and a susceptibility for bone fractures, particularly greenstick fractures. Early skeletal deformities can arise in infants such as soft, thinned skull bones – a condition known as craniotabes, which is the first sign of rickets; skull bossing may be present and a delayed closure of the fontanelles.
Young children may have bowed legs and thickened ankles and wrists; older children may have knock knees. Spinal curvatures of kyphoscoliosis or lumbar lordosis may be present. The pelvic bones may be deformed. A condition known as rachitic rosary can result as the thickening caused by nodules forming on the costochondral joints. This appears as a visible bump in the middle of each rib in a line on each side of the body. This somewhat resembles a rosary, giving rise to its name. The deformity of a pigeon chest may result in the presence of Harrison's groove.
Hypocalcemia, a low level of calcium in the blood can result in tetany – uncontrolled muscle spasms. Dental problems can also arise.An X-ray or radiograph of an advanced patient with rickets tends to present in a classic way: the bowed legs (outward curve of long bone of the legs) and a deformed chest. Changes in the skull also occur causing a distinctive "square headed" appearance known as "caput quadratum". These deformities persist into adult life if not treated. Long-term consequences include permanent curvatures or disfiguration of the long bones, and a curved back. - Prognosis
- Prognosis for rickets largely depends on the underlying cause and the timeliness of treatment. With early diagnosis and appropriate intervention, such as vitamin D and calcium supplementation, the outlook is generally very good, and most children can achieve normal bone development and growth. However, if left untreated, rickets can lead to permanent bone deformities and growth disturbances. Regular monitoring and follow-up care are crucial to ensure successful management and recovery.
- Onset
- Rickets is a disease that affects bone development in children due to a deficiency of vitamin D, calcium, or phosphate. The onset of rickets typically occurs in children between the ages of 3 to 18 months.
- Prevalence
- The prevalence of rickets varies globally and is primarily influenced by factors such as geographic location, socioeconomic status, and access to healthcare. It is more common in regions with limited sunlight exposure, poor nutrition, and higher rates of malnutrition. Vitamin D deficiency is a leading cause of rickets, and it is more prevalent in children who do not get adequate sunlight or have diets lacking in vitamin D and calcium. However, exact prevalence rates can differ significantly depending on these factors.
- Epidemiology
- In developed countries, rickets is a rare disease (incidence of less than 1 in 200,000). Recently, cases of rickets have been reported among children who are not fed enough vitamin D.In 2013/2014 there were fewer than 700 cases in England. In 2019 the number of cases hospitalised was said to be the highest in 50 years.Rickets occurs relatively commonly in the Middle East, Africa, and Asia.
- Intractability
- Rickets itself is not considered intractable. It can typically be treated with nutritional interventions such as increasing the intake of vitamin D, calcium, and phosphate, along with appropriate exposure to sunlight. In some cases, additional medical treatments may be necessary to address underlying conditions. Early diagnosis and proper management are crucial for effective treatment and recovery.
- Disease Severity
- Rickets is a disease that affects bone development in children, causing the bones to become soft and weak, which can lead to bone deformities. The severity of rickets can vary depending on the extent of vitamin D deficiency and the duration of the disease before treatment begins. Mild cases may only show minimal bone changes, while severe cases can result in significant skeletal abnormalities and growth impairment if left untreated.
- Healthcare Professionals
- Disease Ontology ID - DOID:10609
- Pathophysiology
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Rickets is a skeletal disorder that results from a deficiency of vitamin D, calcium, or phosphate. This deficiency leads to improper mineralization of the growing bones in children. The pathophysiology involves:
1. **Vitamin D Deficiency**: This can be due to insufficient dietary intake, lack of sunlight exposure, or malabsorption issues. Vitamin D is crucial for calcium and phosphate absorption from the gastrointestinal tract.
2. **Calcium and Phosphate Deficiency**: Reduced levels of these minerals result in the inability of bones to mineralize properly, causing them to become soft and weak.
3. **Hormonal Impact**: Low vitamin D levels lead to decreased calcium absorption, causing secondary hyperparathyroidism. This condition increases serum calcium at the expense of bone calcium.
4. **Growth Plate Changes**: The lack of mineralization affects the growth plates in children's bones, leading to widened and irregular growth plates and causing bone deformities characteristic of rickets.
Key symptoms include bone pain, delayed growth, muscle weakness, and skeletal deformities such as bowed legs or thickened wrists and ankles. - Carrier Status
- Rickets is a disease generally caused by vitamin D deficiency, leading to weakened bones in children. It is not typically associated with a "carrier status" as it is not a genetic disorder inherited in the conventional sense. Instead, it is largely influenced by nutritional and environmental factors.
- Mechanism
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Rickets is a condition characterized by the softening and weakening of bones in children, primarily due to vitamin D deficiency. It can also be associated with inadequate calcium or phosphate. Here are the mechanisms and molecular mechanisms:
**Mechanism:**
1. **Vitamin D Deficiency:** Rickets primarily occurs when there is a deficiency in vitamin D, which is essential for calcium absorption in the intestine. Without sufficient vitamin D, calcium absorption decreases, leading to low levels of calcium and phosphate in the blood.
2. **Calcium and Phosphate Deficiency:** Adequate levels of calcium and phosphate are crucial for proper bone mineralization. A deficiency in either can directly impair bone strength and structure.
3. **Hormonal Influence:** Parathyroid hormone (PTH) levels increase in response to low calcium, leading to increased bone resorption to maintain calcium levels in the blood, further weakening the bones.
**Molecular Mechanisms:**
1. **Vitamin D Metabolism:** Vitamin D3 (cholecalciferol) is synthesized in the skin upon exposure to sunlight or obtained from the diet. It is then hydroxylated in the liver to 25-hydroxyvitamin D [25(OH)D], and further hydroxylated in the kidneys to its active form, calcitriol (1,25-dihydroxyvitamin D [1,25(OH)2D]). This active form binds to the vitamin D receptor (VDR) on target cells, influencing gene expression to promote calcium and phosphate absorption.
2. **Calcium Absorption:** Calcitriol enhances the expression of calcium-binding proteins such as calbindin in the intestinal mucosa, increasing calcium absorption from the gut.
3. **Bone Mineralization:** Calcitriol, through the VDR, also stimulates osteoblasts (bone-forming cells) to produce essential proteins like osteocalcin, which is necessary for bone mineralization.
4. **Gene Regulation:** The VDR-calcitriol complex binds to specific DNA sequences called vitamin D response elements (VDREs) to regulate the transcription of genes involved in calcium and phosphate homeostasis.
5. **Fibroblast Growth Factor 23 (FGF23):** This hormone, produced by osteocytes, regulates phosphate homeostasis. Elevated levels of FGF23 reduce renal phosphate reabsorption and decrease 1,25(OH)2D synthesis, contributing to hypophosphatemia and impaired bone mineralization seen in rickets.
These mechanisms highlight the critical roles of vitamin D, calcium, and phosphate in bone health and the sophisticated molecular processes that underpin rickets. - Treatment
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Rickets is primarily treated through nutritional supplementation. Key treatments include:
1. **Vitamin D Supplementation**: Vitamin D is crucial as it helps in calcium absorption. Supplements can be given orally or through injections in severe cases.
2. **Calcium and Phosphorus Supplementation**: These minerals are essential for bone health. Ensuring an adequate intake through diet or supplements helps in bone mineralization.
3. **Dietary Adjustments**: Including foods rich in vitamin D, calcium, and phosphorus, such as dairy products, fish, and fortified cereals.
4. **Sunlight Exposure**: Encouraging safe sun exposure can help the body produce vitamin D naturally.
5. **Physical Therapy**: In some cases, physical therapy may be recommended to strengthen muscles and improve mobility in children with bone deformities.
Regular follow-ups with a healthcare provider are essential to monitor the progress and make necessary adjustments to the treatment plan. - Compassionate Use Treatment
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Rickets is a condition characterized by impaired mineralization of the growth plate in children, leading to bone deformities and growth disturbances. The primary cause is usually a deficiency in vitamin D, calcium, or phosphate. The mainstay of treatment for rickets is the correction of these deficiencies through supplementation of vitamin D and minerals.
For compassionate use or experimental treatments, there aren’t many established options since rickets is generally well-managed with conventional treatment. However, in cases where rickets is due to rare genetic disorders (such as hereditary hypophosphatemic rickets), novel therapies may be considered. Some off-label or experimental treatments include:
1. **Burosumab**: This is a monoclonal antibody that targets and inhibits the action of fibroblast growth factor 23 (FGF23). It has been specifically developed for X-linked hypophosphatemia (XLH), a rare genetic form of rickets.
2. **Calcimimetics**: These drugs, like cinacalcet, might be used experimentally in certain forms of rickets to manage related calcium and phosphate imbalances.
3. **Gene Therapy**: In very specific and severe cases, research is ongoing into the potential for gene therapy to correct underlying genetic defects that cause rickets.
It's important to consult with a healthcare professional to determine the most appropriate treatment plan based on the specific cause and severity of rickets in any given case. - Lifestyle Recommendations
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Lifestyle recommendations for rickets:
1. **Sunlight Exposure**: Ensure adequate exposure to sunlight, as it helps the body produce vitamin D which is crucial for bone health.
2. **Diet**: Incorporate foods rich in vitamin D and calcium such as fortified dairy products, fish, eggs, and green leafy vegetables.
3. **Physical Activity**: Encourage regular physical activity to strengthen bones and muscles.
4. **Supplementation**: Consider vitamin D and calcium supplements, especially for individuals at risk or with limited sun exposure.
5. **Regular Check-ups**: Regular medical check-ups to monitor bone development and nutritional status.
These steps help prevent and manage rickets, promoting healthy bone development. - Medication
- Rickets often requires supplementation with vitamin D, calcium, and sometimes phosphorus to correct deficiencies and promote healthy bone mineralization. Treatment may include either oral vitamin D capsules/tablets or more potent forms like calcitriol in cases of severe deficiency or malabsorption. It is crucial for the patient to have a well-balanced diet rich in these nutrients and get regular sunlight exposure, as UV rays help the body synthesize vitamin D. In addition, treating any underlying conditions that lead to nutrient malabsorption is essential.
- Repurposable Drugs
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Rickets is primarily caused by a deficiency in vitamin D, calcium, or phosphate. The treatment often involves supplementation of these nutrients. There aren't specific drugs for rickets that are conventionally "repurposed" from other treatments. However, managing the symptoms and causes might involve:
1. **Vitamin D supplements**: Ergocalciferol (vitamin D2) or cholecalciferol (vitamin D3).
2. **Calcium supplements**: Calcium carbonate or calcium citrate.
These supplements help counteract the deficiencies that cause rickets. It is important to consult with a healthcare provider for a tailored treatment plan. - Metabolites
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Rickets is primarily associated with abnormalities in Vitamin D metabolism. The key metabolites involved are:
1. **25-Hydroxyvitamin D (25(OH)D)**: This is the major circulating form of Vitamin D, produced in the liver.
2. **1,25-Dihydroxyvitamin D (1,25(OH)₂D)**: Also known as calcitriol, this is the biologically active form of Vitamin D, produced in the kidneys.
These metabolites play crucial roles in calcium and phosphate homeostasis, which are essential for healthy bone formation and growth. Deficiency or disruption in the metabolism of these compounds can lead to rickets, characterized by soft and weakened bones. - Nutraceuticals
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Rickets is a disease characterized by the softening and weakening of bones in children, primarily due to a prolonged deficiency of vitamin D, calcium, or phosphate. Nutraceuticals that can help in the prevention and management of rickets include:
1. **Vitamin D Supplements:** Essential for calcium absorption and bone health. Available in forms such as vitamin D2 (ergocalciferol) and D3 (cholecalciferol).
2. **Calcium Supplements:** To ensure adequate calcium levels for bone formation and maintenance.
3. **Phosphorus Supplements:** Necessary for bone mineralization and growth.
4. **Cod Liver Oil:** A natural source of vitamin D and omega-3 fatty acids.
Nanotechnologies in the context of rickets are still primarily in research phases but may offer advanced methods for delivering these nutrients more efficiently. For example, nanoencapsulation could potentially enhance the bioavailability and stability of vitamin D and calcium supplements, ensuring better absorption and efficacy. - Peptides
- Rickets is primarily related to vitamin D deficiency, calcium, or phosphate. It does not directly involve specific peptides. Peptides themselves are short chains of amino acids and do not have a direct impact on rickets. However, adequate levels of vitamin D, calcium, and phosphate are crucial in preventing and treating the disease.