Diseases List

ID 375
Name RICKETS
Cause A lack of vitamin D or calcium is the most common cause of rickets. Vitamin D largely comes from exposing the skin to sunlight, but it's also found in some foods, such as oily fish and eggs. Vitamin D is essential for the formation of strong and healthy bones in children.
Signs Symptoms pain or tenderness in the bones of the arms, legs, pelvis, or spine. stunted growth and short stature. bone fractures. muscle cramps. teeth deformities, such as: delayed tooth formation. holes in the enamel. ... skeletal deformities, including: an oddly shaped skull. bowlegs, or legs that bow out.
Diagnosis Serum alkaline phosphatase (ALP), which is typically high as this is a disease of abnormal mineralization and increased osteoblastic activity. Alkaline phosphatase activity is induced by phosphate deficiency in rickets.
Investigations Investigations: 1. Radiological examination- of the wrist will show the out line of the joint is blurred and fuzzy and the epiphyseal zone becomes thickened and the distal ends of the shafts are widened. When fully developed this shows a typically ‘saucer’ deformity. 2. Chemical pathology- plasma calcium tends to fall from its normal level. More commonly the serum phosphate falls. There is an increase in alkaline phosphatase- is of diagnostic value.
Management Increasing a child's intake of vitamin D and calcium. Vitamin D and calcium levels can be increased by: eating more foods that are rich in calcium and vitamin D. taking daily calcium and vitamin D supplements.
Introduction Rickets is a disease of growing bone characterised by defective mineralisation due to impaired calcium and phosphorus metabolism, which occurs when infants or children obtain insufficient vitamin-D. Failure of mature bone to mineralize is termed as osteomalacia.
History
Etiology A lack of vitamin D or calcium is the most common cause of rickets. Vitamin D largely comes from exposing the skin to sunlight, but it's also found in some foods, such as oily fish and eggs. Vitamin D is essential for the formation of strong and healthy bones in children
Clinical Features Clinical features: The infant with rickets is restless, fretful and pale, with flabby muscles. ‘Sweating of the head is common. The abdomen is distended. The infant is prone to respiratory infections and gastrointestinal upsets. Development is delayed, the teeth often erupt late, there is failure to sit, stand, crawl, and walk at normal ages. The bony changes are the most characteristic signs of rickets. There is often craniotabies, enlargement ofthe epiphysis, at the lower end ofthe radius and at the costochondral junctions of the the ribs (rickety rosary); there may be bossing of the forntal and parietal bones. There may deformities such kyphosis, knock knees or bow legs. Tetany may develop.
Preventions Eating a diet that includes vitamin D and calcium, spending some time in sunlight, and if necessary, taking vitamin D supplements
Treatment Treatment: 1. Vitamin-D therapy: Daily dose: A therapeutic dose of ergocalciferol (02) 250-lOOOug or cholecalciferol (D3) 25-125ug (1000-5000 i.u.) daily. Clinical improvement can be shown by an elevation of serum 25 (OH)D and a reduction in parathyroid hormone (PTH). A demonstrable healing can also be shown on radiograph within 2-4 weeks of therapy. With vitamin-D treatment serum alkaline phosphatase sometimes rises initially as bone mineralisation increases, later on it falls to within normal range. After 3-4 months, treatment can be stopped or reduced to the prophylactic dose of cholecalciferol (Ds) 10-20ug daily. Children can be given halibut-liver oil in a very small dose (1ml). For severe cases needing 125(ig or more daily. Synthetic calciferol is useful. Stoss therapy: One massive dose of vitamin D (300,000-600,000 i.u) is followed by more rapid healing. If no healing occurs with above treatment, the rickets is probably resistant to viamin D. If healing is complete (assessed radiologically; plasma alkaline phosphatase level also returns to normal with effective treatment), then 400 IU of vitamin D should be supplied daily (in the form of drug or diet). 2. Calcium supplement: In addition to vitamin-D, rachitic infants and children require an ample supply of calcium in their diet, approximately 600mg/day; this is contained in 1 pint (600ml) of milk. 3. If tetany is present i.v. calcium gluconate 5-20c.c 10% solution to be given slowly.
Complications Because rickets softens the areas of growing tissue at the ends of a child's bones (growth plates), it can cause skeletal deformities such as: Bowed legs or knock knees. Thickened wrists and ankles. Breastbone projection
Prognosis Most children treated for nutritional rickets recover completely and grow into healthy adults. Left untreated, rickets can lead to: Failure to grow. An abnormally curved spine. Bone deformities. Dental defects. Seizures.
Types
Classification Classification of Rickets: I. Calcium deficiency with secondary hyperparathyroidism (Deficiency of vitamin-D; low 25(OH)D & no stimulation of higher 1,25(OH)2D values, as a result of calcium malabsorption)- 1. Lack of vitamin D a. Lack of exposure to sunlight b. Dietary deficiency of vitamin D c. Congenital 2. Malabsorption of vitamin D 3. Hepatic disease 4. Anticonvulsant drugs 5. Renal osteodystrophy 6. Vitamin D-dependent type 1 II. Primary phosphate deficiency (no secondary hyperparathyroidism) or vitamin D resistant ricket or familial hypophosphatemia- 1. Genetic primary hypophosphatemia 2. Fanconi syndrome a. Cystinosis b. Tyrosinosis c. Lowe syndrome d. Acquired 3. Renal tubular acidosis (type II proximal) 4. Oncogenic hypophosphatemia 5. Phosphate deficiency or malabsorption a. Parenteral hyperalimentation b. Low phosphate intake III. End-organ resistance to 1,25 (OH)2Dj; vitamin D-dependent, type II I. Vitamin D-dependent type 2 (several variants) IV. Related conditions resembling rickets 1. Hypophosphatasia 2. Metaphyseal dysostosis a. Jansen type b. Schmidtype
Observation
Pathology
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