Case Report and Literature Review of Hypoparathyroidism-Deafness-Renal Dysplasia Syndrome in Children / 实用儿科临床杂志

ABSTRACT

Objective To explore the diagnosis and treatment of hypopara thyroidism-deafness-renal dysplasia(HDR) syndrome in children.Methods According to the symptoms,signs,laboratory examination and the previous published papers of other authors,the disease of the child was diagnosed and treated,and some related literatures were reviewed.Results The 12-years-old boy presented with tetany and deafness and Chvostek's and Trousseau's signs were positive.The initial laboratory studies showed that the serum concentration of calcium was lower,parathormone was in the low limit of normal range and alkalin phosphatase was normal.An audiography revealed the pattern of sensorineural deafness in all frequencies.Abdominal CT revealed that his right kidney was not observed and creatinine clearance rate was low.After treated with calcium carbonate and vitamin D,the symptoms and the signs were improved.Conclusion HDR syndrome is a rare disorder and less recognized in children,and therefore more attention should be paid to avoid missing diagnosis.