Ochronosis: report of two familial cases

Ochronosis of alkaptonuria is a rare hereditary autosomal recessive disease in wich there is an absence of homogentisic acid oxidase resulting in accumulation of homogentisic acid in tissues. To report a new case of alkaptonuria. A 49-year-old man had been followed for 4 years for chronic lombalgia and arthropaty of two knees. He is married to his cousin and father of 4 girls. His parents are also cousins. The clinical examination has found a cutanuous pigmentation and a lumbar stiffness. At biological checking, creatininemia was at 190 micro mol/L and there are not inflammatory indicators. The radiography have shown a discal dorsolumbar calcifications, anterior inter somatic bridges and bilateral arthritis of knees without articular chondrocalcinosis. The diagnosis of ochronosis have been suspected and confirmed by the blackness of urine and the dosage of alkaptonuria. The patient has been treated symptomatiquely. Familial investigation have revealed that his daughter suffred from the same disease with the notion of blackness of urine. She is 12 year old and she's asymptomatic on the osteoarticular level. Alkaptonuria causes a degenerative arthropaty wich can endanger functional prognosis. Early diagnosis and scanning of this innate error of metabolism by genetic study play a fundamental interest, especially for molecular and genetic advisement

Chronological change in epidemiologic characteristics of paediatric urolithiasis in the Tunisian center during the past 25 years

The incidence of paediatric urolithiasis has been constantly decreasing during the past twenty-five years [1983-2007] in Tunisia as well as in other Mediterranean Countries. This study will reveal if the incidence of stone disease in children has changed and will show the change in stone composition. The incidence of paediatric urolithiasis has been constantly decreasing during the past twenty-four years [from 9,1 in eighties to 0,4 cases/1000 admissions/year in 2007]. The prevalence of calcium oxalate stones has been constantly increasing during the past twenty-five years in Tunisia [15.6 per cent in eighties Vs 51.5 actually]. Actually infections stones were less frequent[11.8 percent actually Vs 39.4 percent in eighties]. The decrease in struvite frequency in children patients during the past twenty-five years and the stabilization of calcium phosphate stones are the result of a significant improvement of diagnostics and the treatment of urinary tract infections in the young children in our country