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Archivos de Pediatría del Uruguay

On-line version ISSN 1688-1249

Abstract

HALTY, Margarita; CAGGIANI, Marina  and  NOBOA, Oscar. Hiperoxaluria primaria en tres hermanos. Arch. Pediatr. Urug. [online]. 2013, vol.84, n.2, pp.132-135. ISSN 1688-1249.

Summary  Hyperoxaluria (HP) is responsible of 2%-20% of the metabolic causes of lithasis in children and adolescents. This can be secondary or primary. The primary one may be type I or II, its inheritance is autosomal recessive. The objective of this issue is to analyse the diagnosis and outcome of two siblings type I HP and a third one who probably also has it. At age 9 the first case presented a nephritic colic, multiple bilateral lithiasis and a mild renal failure. She had a hyperoxaluria of 214 mg/ 1,73 m2 sc. Secondary causes were discarded. The genetic test showed two copies of the Ile244Th gene mutation. The other two patients presented similar clinical features at 8 and 17 years old. Pyridoxine in high doses decreased oxaluria levels as it is described in one third cases. The patients' follow up were of 7, 3 and 1 year each. They persist with bilateral lithiasis, without nephrocalcinosis and no homeostasis alterations. The severity of HP type I is variable, some patients present at an early age recurrent lithiasis. Others suffer from severe renal failure in their childhood and adolescence, meanwhile others present symptoms in adultness. HP type I is a progressive and severe illness. Its early diagnosis can improve its outcome mainly in those who respond to pyridoxine. The management of lithiasis and its complications is very important to avoid chronic renal failure. In this last situation aggressive dialysis, liver and kidney transplantation are therapeutic options. This is the first report of primary HP type I in our country.

Keywords : HYPEROXALURIA, PRIMARY; UROLITHIASIS.

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