[A case of familial bilateral polycystic kidney]. / Un caso di rene policistico bilaterale familiare.

The paper describes a case of bilateral polycystic kidney in a 14-year-old whose father and 3 brothers are also affected by bilateral renal cystic dysplasia (as is a paternal aunt), while a paternal uncle is affected by constant hematuria with no ultrasound signs of renal cystic dysplasia. The case in question is an adult type of dominant autosomal polycystic renal dysplasia, affecting all the males in the family and also a female within the family nucleus. The case is described in the light of the most recent reports on the subject and the problem of prevention is also discussed.

[Remarks on a clinical case of partial carbamyl phosphate synthetase deficiency]. / Osservazioni su un caso clinico di deficit parziale di carbamil-fosfato-sintetasi.

A preliminary undiagnosed case of partial carbamyl-phosphate-synthetase deficiency in a 14 year old patient is described. This extremely rare metabolic disorder is unlikely to produce clinical symptoms at such an advanced age. Details are given of the clinical picture, the diagnosis (by liver biopsy and post mortem liver examination) and the attempts at treatment.