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Rickets

Vitamin D Deficiency Disease

Rickets is characterized by weakening and softening of bones in children with vitamin D deficiency. Such a type of condition strikes children and even the adolescents.


Presentation

Rickets causes the bones of the affected children to become weak and soft. Weakening and softening of the bones causes them to become fragile which in turn makes it more susceptible to fractures [8]. Soft and weak bones also cause poor growth and development in affected children. In such conditions, the child is shorter than average.

Pain may set in which may cause the child to become tired easily. Such children also experience difficulty while walking. Dental problems may develop including delay in teeth occurrence and the child is more susceptible to develop cavities.

Skeletal deformities such as development of thickened ankles and wrists, bowed legs and projection of breastbone occur.

Pain
  • Osteomalacia Mildly affected patients may present with widespread bone pain and tenderness (especially low back pain and in the hips), proximal muscle weakness and lethargy.[patient.info]
  • If you're an adult and you’re experiencing bone pain or muscle weakness you should also see your GP to get it checked out. Page last reviewed: 25/05/2018 Next review due: 25/05/2021[nhs.uk]
  • The signs and symptoms of rickets can include: pain – the bones affected by rickets can be sore and painful, so the child may be reluctant to walk or may tire easily; the child's walk may look different (waddling) skeletal deformities – thickening of[nhs.uk]
  • The bones may be painful. The diagnosis is often made in young children because they don't walk, due to painful knees. Frequently patients have problems with development of teeth.[courses.washington.edu]
Short Stature
  • They were examined due to short stature and genu varum of both tibias. They were treated with calcitriol and Joulie's solution, whereon it was observed that serum parathyroid hormone and phosphaturia decreased while phosphataemia increased.[ncbi.nlm.nih.gov]
  • One patient had asymptomatic hypercalcemia with short stature. Parathyroid adenoma was detected in all the four cases and all of them underwent resection of parathyroid adenomas confirmed on histopathology.[ncbi.nlm.nih.gov]
  • The clinical presentation is heterogeneous and depends on the age of onset and pathogenesis but includes bowing deformities of the legs, short stature and widening of joints. The disorder can be caused by nutritional deficiencies or genetic defects.[ncbi.nlm.nih.gov]
  • A 2-year-old girl with alopecia and short stature and without any family history of consanguinity was diagnosed with HVDRR by typical laboratory data findings and clinical features of rickets.[ncbi.nlm.nih.gov]
  • Rickets was diagnosed in a 12-year-old girl presenting with short stature, genu valgum, eversion deformity at the ankle joints, and flat feet.[ncbi.nlm.nih.gov]
Anemia
  • […] cell anemia and spherocytosis.[omicsonline.org]
  • As a result of the official statistics and our research it turned out that children in this age-group more often suffer from intestinal infections, anemia, hypertrophy, rickets, skin and subcutaneous fiber disease, deficiencies occurring in prenatal period[ncbi.nlm.nih.gov]
  • Other manifestations include iron deficiency anemia, osteoporosis.[bmcresnotes.biomedcentral.com]
  • Hematologic disorders are often observed in common rickets, including hypochromic anemia and the rare Von Jacksch–Luzet syndrome.[jci.org]
  • He was discharged with appropriate diet and treatment for anemia and rickets . Association with rickets and/or chest infection was frequent in the 12-20 month age group.[dictionary.cambridge.org]
Developmental Delay
  • We report a unique patient with CSHS associated with giant congenital melanocytic naevus (CMN), neurocutaneous melanosis and EN syndrome, manifesting as facial linear sebaceous naevus, developmental delay and ocular dermoids.[ncbi.nlm.nih.gov]
  • Rickets is associated with biochemical abnormalities, bone deformities, impaired growth, developmental delays, and, late in the course of the disease, seizures.[doi.org]
  • The condition is associated with biochemical abnormalities, bone deformities, developmental delays, impaired growth and sometimes even seizures (in the late course of disease).[news-medical.net]
  • Treatment can prevent grave complications, including developmental delays, waddling gait, and seizures. Once a widespread scourge of childhood, rickets is now a preventable and treatable disease.[encyclopedia.com]
Fever
  • ‘Its founder, Joseph Pilates, was born in Dusseldorf in 1880 and despite being a rather sickly child who suffered from rickets, asthma and rheumatic fever, he lived to the age of 87.’ ‘To absorb calcium, the body needs adequate vitamin D.[en.oxforddictionaries.com]
  • But cases of rickets, gout, syphilis and scarlet fever are on the rise in Britain - with financial inequality and bad diets thought to be to blame. Here's everything you need to know about rickets, and how to keep your kids' bones healthy...[thesun.co.uk]
  • PubMed View Article Google Scholar Cooney MJ, El-Matary W: Celiac disease presenting as Fever of Unknown Origin.[bmcresnotes.biomedcentral.com]
  • Mishra, VA Harbada, Sharma R (2015) Vitamin B12 and Vitamin D Deficiencies: An Unusual Cause of Fever, Severe Hemolytic Anemia and Thrombocytopenia. J Family MED Prim Care 4: 145-148.[omicsonline.org]
  • Examples of rickettsial diseases are Rocky Mountain spotted fever and typhus. rickets a disease of young growing animals caused by a nutritional deficiency of phosphorus or vitamin D.[medical-dictionary.thefreedictionary.com]
Diarrhea
  • Frequent symptoms and signs include chronic diarrhea, weight loss, and abdominal distention (in 40-50% of patients) [ 1 ]. Other manifestations include iron deficiency anemia, osteoporosis.[bmcresnotes.biomedcentral.com]
  • Also, not consuming enough calcium can cause rickets, as may vomiting, diarrhea, and liver diseases. Certain complications of digestive disorders can also cause rickets. Treatment focuses on providing nutrition.[medicalnewstoday.com]
  • However, ulcerative colitis were seen in celiac children on restrictive gluten-free diet with persistent diarrhea or bleeding from lower gastrointestinal tract.[omicsonline.org]
  • Gastrointestinal upsets with diarrhea are common. The infant is prone to respiratory infections.[karl-may-stiftung.de]
  • Diarrhea and respiratory infection may occur. Occasionally, irritability of the central nervous system (hypocalcemia) results in spasms, convulsions, Chvostek’s sign, and opisthotonus. But this is rare. Most children have muscular hypotonia.[boneandspine.com]
Dental Caries
  • Dental deformities include delayed formation of teeth, defects in the structure of teeth, holes in the enamel, and increased incidence of dental caries.[news-medical.net]
  • Tooth development is impaired, with delayed eruption, enamel hypoplasia, and early dental caries ( 12 – 14 ). The pelvic bone structure is flattened in rachitic children.[jci.org]
  • caries ) Impaired growth Increased bone fractures Muscle cramps Short stature (adults less than 5 feet or 1.52 meters tall) Skeletal deformities such as an odd-shaped skull, bowlegs, bumps in the ribcage (rachitic rosary), breastbone that is pushed forward[nlm.nih.gov]
  • caries ) Impaired growth Increased bone fractures Muscle cramps Short stature (adults less than 5 feet or 1.52 meters tall) Skeletal deformities such as an odd-shaped skull, bowlegs , bumps in the ribcage (rachitic rosary), breastbone that is pushed[medlineplus.gov]
  • caries ) Impaired growth Increased bone fractures Muscle cramps Short stature (adults less than 5 feet tall) Skeletal deformities such as an odd-shaped skull, bowlegs , bumps in the ribcage (rachitic rosary), breastbone that is pushed forward (pigeon[nicklauschildrens.org]
Gingival Hypertrophy
  • On examination gingival hypertrophy and genu varum were observed. Investigations revealed hypophosphatemia, normal 1,25 and 25 (OH) vitamin D, and high alkaline phosphatase. An MRI showed an osteolytic lesion of the maxilla.[ncbi.nlm.nih.gov]
Hyperkeratosis
  • Generalized dry scaly lesions with erythema, along with hyperkeratosis of the palms and the soles, suggestive of lamellar ichthyosis were present.[ncbi.nlm.nih.gov]
Lagophthalmos
  • Ichthyosis is known to have ocular associations such as blepharitis, hypertrophic conjunctivitis, corneal vascularization, ectropion, lagophthalmos, etc. However, no reports of its association with glaucoma are there, to the best of our knowledge.[ncbi.nlm.nih.gov]
Hearing Impairment
  • Sixteen (80%) children had visual impairments and eight (40%) children had hearing impairments. Serum calcium-phosphorus product was less than 30 in 18 children (90%). Twelve children (60%) were hypocalcemic and 18 (90%) were hypophosphatemic.[ncbi.nlm.nih.gov]
Skeletal Dysplasia
  • Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia characterized by hypoplastic clavicles, late closure of the fontanels, dental problems and other skeletal features.[ncbi.nlm.nih.gov]
  • Congenital Bowing Congenital bowing of the tibia is an unusual condition that is believed to result from an abnormal intrauterine position, although localized skeletal dysplasia or fetal vascular insufficiency may also play a role in some cases.[doi.org]
  • A pragmatic approach to the radiologic diagnosis of pediatric syndromes and skeletal dysplasias. Radiol Clin North Am. 2001;39:791–802. 25. Drezner MK. Rickets and osteomalacia. In: Goldman L, Ausiello DA, eds. Cecil Textbook of Medicine. 22nd ed.[aafp.org]
Knee Pain
  • Severe vitamin D deficiency ( Frequent back pain and knee pain after exercise can be suggestive of impaired bone health.[omicsonline.org]
Distractibility
  • Because of this, at 15 years of age femoral distraction was performed, but no bone callus was observed 14 months later. Consequently, they were treated with subcutaneous growth hormone, showing bone callus at 6 months.[ncbi.nlm.nih.gov]
Seizure
  • Hypocalcemic seizures are uncommon in the post-neonatal period. We report an infant with hypocalcemic seizures caused by severe deficiency of vitamin D.[ncbi.nlm.nih.gov]
  • We report a case of undiagnosed nutritional rickets presenting as 'Afebrile' seizure in a seven-month-old Somali girl.[ncbi.nlm.nih.gov]
  • Rickets is associated with biochemical abnormalities, bone deformities, impaired growth, developmental delays, and, late in the course of the disease, seizures.[doi.org]
  • A 7-month-old boy presented with recurrent infections, seizures, failure to thrive, wheezing and respiratory distress progressing to global respiratory failure.[ncbi.nlm.nih.gov]
  • The calcium deprivation spectrum has hypocalcaemic (seizures, tetany and dilated cardiomyopathy) and late hypophosphataemic (rickets, osteomalacia and muscle weakness) complications.[ncbi.nlm.nih.gov]

Workup

A preliminary physical examination is done to evaluate for the signs and symptoms of bone tenderness and presence of associated abnormalities. In addition, further tests are required to confirm the diagnosis of rickets. These tests include:

  • Arterial blood gas measurements
  • Blood tests to analyze the levels of calcium, phosphorus and parathyroid hormones
  • Bone X-rays are done which reveal bone deformities
Phosphate Decreased
  • , decreased alkaline phosphatase, decreased PTH ML 3 Select Answer to see Preferred Response PREFERRED RESPONSE 1 (OBQ04.95) The active form of vitamin-D (calcitriol) is produced by the enzyme 1-alpha-hydroxylase.[orthobullets.com]
Parathyroid Hormone Increased
  • In the later course, levels are, slightly low because parathyroid hormone increases renal excretion. Very high or very low concentrations suggest renal rickets. Parathyroid hormone Normal values vary with age and method: 1–6 pmol/L.[boneandspine.com]
Prolonged QT Interval
  • However, association of nutritional rickets with electrocardiography changes and prolonged QT interval is not well documented. It is a rare, potentially serious and yet easy-to-treat complication as shown in our case.[ncbi.nlm.nih.gov]

Treatment

In majority of the cases, rickets can be corrected by administration of vitamin D and calcium supplements. In many cases, single day dose therapy is considered wherein 600,000 IU of Vitamin D is administered [9]. In the gradual dose method, about 5000 to 10,000 IU of vitamin D is administered every day for a period of 2 to 3 months. It is necessary to carefully follow the dosage schedule as prescribed by the doctor. This is so because excessive administration of vitamin D can have deleterious effects on the body [1].

Surgery is often the last resort and is employed in cases of severe structural deformities. It is indicated in cases of severe forms of bow legs and spinal deformities.

Prognosis

The prognosis of the condition is usually favorable with timely initiation of treatment. When minerals and Vitamin D are supplemented during the early stages of the disease then skeletal deformities gradually get corrected. It has been seen that administration of adequate doses of vitamin D and minerals show an improvement in laboratory value and bone X-ray of the affected individuals. However, failure to initiate treatment can cause permanent skeletal deformities to set in.

Etiology

Deficiency of vitamin D, calcium and phosphorus causes development of rickets amongst children and adolescents. Deficiency of these nutrients occurs in population who live in climates where they are little exposed to sunlight or in those who prefer to stay indoors. Children who are intolerant to lactose also exhibit vitamin D deficiency. Children who follow a strict vegetarian diet are also susceptible to develop deficiency of vitamin D which if continues for long term can cause rickets [2]. Heredity is yet another factor that can lead to the disorder. In addition, children who have renal tubular acidosis are also likely to suffer from the condition [3].

Epidemiology

Rickets is a common occurrence in infants who are only breastfed and are dark skinned. However, in developed countries the incidence is low and is estimated to be 1 in 200,000. In developing countries, rickets was a common occurrence in the past; however the incidence of the condition decreased due to fortification of foods with vitamin D since the year 1940 [4].

Sex distribution
Age distribution

Pathophysiology

Vitamin D plays a vital role in regulating the calcium and phosphorus levels. In conditions when the levels of these mineral decrease significantly, the body in response produces hormones that causes the calcium and phosphorus to be released from the bones [5]. This in turn leads to softening and weakening of the bones, causing development of rickets [6] [7].

Prevention

Rickets can be prevented by ensuring proper intake of vitamin D from the diet. Parents are also advised to encourage their children to play outdoors so that they can adequately get exposed to sunlight.

Children with underlying disease conditions governing the kidneys should be promptly treated. This is because poor renal functioning interferes with appropriate absorption of vitamin D causing rickets. In addition, children with gastrointestinal disorders or other diseases should be given supplements of vitamin D and calcium [10].

Summary

Children who are only breastfed often fall prey to rickets because breast milk does not contain sufficient amounts of vitamin D. In many cases, rickets also result due to deficiency of calcium and phosphorus [1]. It has been reported that rickets was the first childhood disease that was caused due to industrial pollution. During the era of industrial revolution, rickets outbreak occurred in the temperate zone because the pollutants from the factories blocked the sun rays. This led to development of vitamin D deficiency in the population.

Patient Information

Definition

Rickets is a condition characterized by development of weak and soft bones due to vitamin D deficiency. Inadequate level of vitamin D causes calcium and mineral from the bones to be released that ultimately results in weakening of the bones. Incidence of rickets has undergone a significant decline in developed as well as developing countries due to introduction of foods fortified with vitamin D.

Cause

Lack of vitamin D causes rickets. Children who play indoors are not exposed to sunlight which devoid them of sun rays. A diet that is deficient in calcium and vitamin D can also lead to development of rickets. Heredity is yet another factor that is known to play foul. Children or adolescents suffering from kidney disorders are also susceptible to develop rickets.

Symptoms

Symptoms of rickets include pain in spine, legs, development of muscle weakness and delayed growth. In many cases structural deformities such as bow legs, projection of breastbone and thickening of the wrists and ankles can also set in.

Diagnosis

Diagnosis of rickets includes conducting blood tests to evaluate levels of calcium, phosphorus and vitamin D. Arterial blood gas measurement along with bone X-rays are also conducted.

Treatment

Treatment of rickets includes administration of vitamin D supplements to correct the condition. Single dose therapy or gradual dose is given for patients with rickets. Surgery is often the last resort which is employed when there are severe structural deformities.

References

Article

  1. Misra M, Pacaud D, Petryk A, et al. Vitamin D deficiency in children and its management: review of current knowledge and recommendations. Pediatrics 2008; 122:398.
  2. Institute of Medicine (US) Committee to Review Dietary Reference Intakes for Vitamin D and Calcium. Ross AC, Taylor CL, Yaktine AL, Del Valle HB eds. Dietary Reference Intakes for Calcium and Vitamin D. Washington DC: National Academies Press; 2011.
  3. Malloy PJ, Feldman D. Genetic disorders and defects in vitamin d action. Endocrinol Metab Clin North Am 2010; 39:333.
  4. Lowdon J. Rickets: concerns over the worldwide increase. J Fam Health Care. Mar-Apr 2011;21(2):25-9.
  5. Kruse K. Pathophysiology of calcium metabolism in children with vitamin D-deficiency rickets. J Pediatr 1995; 126:736.
  6. Reichel H, Koeffler HP, Norman AW. The role of the vitamin D endocrine system in health and disease. N Engl J Med 1989; 320:980.
  7. Pitt MJ. Rickets and osteomalacia are still around. Radiol Clin North Am 1991; 29:97.
  8. Chapman T, Sugar N, Done S, et al. Fractures in infants and toddlers with rickets. Pediatr Radiol 2010; 40:1184.
  9. Shah BR, Finberg L. Single-day therapy for nutritional vitamin D-deficiency rickets: a preferred method. J Pediatr. Sep 1994;125(3):487-90.
  10. Wagner CL, Greer FR. Prevention of rickets and vitamin D deficiency in infants, children, and adolescents. Pediatrics. Nov 2008;122(5):1142-52.

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Last updated: 2019-07-11 22:50