Clinical Case of Immune Dysregulation, Polyendocrinopaty, Enteropathy, X-Linked (IPEX) Syndrome with Severe Immune Deficiency and Late Onset of Endocrinopathy and Enteropathy.

Objective. To describe the clinical characteristics of IPEX syndrome in a child with FOXP3 mutation. Clinical Case.

Clinical aspects of renal involvement in Bardet-Biedl syndrome.

The Bardet-Biedl syndrome (BBS), which consists of polydactyly, obesity, mental retardation, pigmentary retinopathy and hypogonadism has been known since 1922, but due to the great similarity to the clinical manifestations of the Laurence-Moon syndrome (LMS) there is a considerable terminological confusion in the medical literature. An attempt is made at clarifying the problem. Four children from two families have been observed.

[Dental caries with chronic renal insufficiency].

Chronic renal insufficiency (CRI) is an irreversible lesion of the renal function with advancing of renal rickets, dyselectrolythemia, azotemic osteodystrophia in the bones. On the background of all those severe changes in organism, low indices of dental caries epidemicty are cited in literature. A total of 30 children with CRI were examined: Group 1--21 children with disease onset immediately after birth and duration from 5 to 15 years and group 2--9 children with disease onset after the age of 7 and duration from 2 to 5 years.