RICKETS Definition: Rickets is a disease of growing bone which occures before fusion of epiphysis and is due to unmineralized matrix at the growing plate. Clinical Evaluation: History: Dietary history: Because the majority of children with rickets have a nutritional defciency, the initial evaluation should focus on a dietary history, emphasizing intake of vitamin D and calcium. Most children in industrialized nations receive vitamin D from formula, fortifed milk, or vitamin supplements. Rickets has occurred in children given products that are called milk (soy milk) but are deficient in vitamin D and/or minerals. Determining a child’s intake of dairy products, the main dietary source of calcium, provides a general sense of calcium intake. High dietary fiber can interfere with calcium absorption. H/O sunlight exposure: 1. Cutaneous synthesis mediated by sunlight exposure is an important source of vitamin D. It is important to ask about time spent outside, sunscreen use, and clothing, especially if there may be a cultural reason for increased covering of the skin. 2. Because winter sunlight is ineffective at stimulating cutaneous synthesis of vitamin D, the season is an additional consideration. 3. Children with increased skin pigmentation are at increased risk for vitamin D defciency because of decreased cutaneous synthesis. Presence of maternal risk factors: The presence of maternal risk factors for nutritional vitamin D deficiency, including diet and sun exposure, is an important consideration when a neonate or young infant has rachitic findings, especially if the infant is breast-fed. H/O medications: The child’s medication use is relevant, because certain medications such as the anticonvulsants phenobarbital and phenytoin increase degradation of vitamin D, and aluminum-containing antacids interfere with the absorption of phosphate. H/O chronic diarrhea and malabsorption: Malabsorption of vitamin D is suggested by a history of liver or intestinal disease. Undiagnosed liver or intestinal disease should be suspected if the child has gastrointestinal (GI) symptoms, although occasionally rickets is the presenting complaint. Fat malabsorption is often associated with diarrhea or oily stools, and there may be signs or symptoms suggesting deficiencies of other fat-soluble vitamins (A, E, and K). H/O renal disease: A history of renal disease (proteinuria, hematuria, urinary tract infections) is an additional significant consideration, given the importance of chronic renal failure as a cause of rickets. Polyuria can occur in children with chronic renal failure or Fanconi syndrome. Family history: The family history is critical, and detects the large number of genetic causes of rickets, although most of these causes are rare. 1. History of consanguinity 2. History of leg deformities, difficulties with walking, or unexplained short stature of parents (X-linked hypophosphatemia) 3. A history of an unexplained sibling death during infancy may be present in the child with cystinosis, the most common cause of Fanconi syndrome in children. Others: Children with rickets might have a history of delayed dentition, dental caries, poor growth, delayed walking, waddling gait, recurrent pneumonia, and hypocalcemic symptoms. Physical examination: The physical examination focuses on detecting manifestations of rickets. It is important to observe the child’s gait, auscultate the lungs to detect atelectasis or pneumonia, and plot the patient’s growth chart and compare with mid parental height. Alopecia suggests vitamin D-dependent rickets type 2. In case of familial hypophosphatemic rickets deformities of limb are more prominent than other manifestation like chest deformity or head change, which are more florid manifestation of nutritional rickets. Investigations: 1) The initial laboratory tests in a child with rickets should include- a) Serum calcium- normal or low b) Serum Phosphorus- normal or low c) Serum Alkaline phosphatase- high d) Rachitic index (product of Serum calcium & serum Phosphorus) is – – >40: rickets unlikely – 30-40: doubtful –
Posted on: Sat, 13 Jul 2013 20:56:56 +0000
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