Phenotyping of Primary Hyperoxaluria

Phenotyping of Primary Hyperoxaluria in Children and Adults

985 / 5000 Résultats de traduction Primary hyperoxaluria is a rare autosomal recessive disease with an estimated prevalence of around 1 to 3 cases per million population. The most frequent attacks are urolithiasis disease and nephrocalcinosis, ultimately leading to end-stage chronic renal failure. The phenotype of this pathology is very heterogeneous, making the diagnosis difficult.

There is currently a significant diagnostic delay. This is potentially due to atypical forms, or to insufficient clinicians' awareness of its research.

However, the early diagnosis of this pathology is essential, since end-stage chronic renal failure can be avoided or at least delayed with early and appropriate management.

The objective of the study is to describe the phenotype of currently diagnosed primary hyperoxaluria, in order to identify the classic presentations but also the characteristics of atypical presentations

Inclusion criteria:

• Major or minor subject having undergone genetic research for primary hyperoxaluria between 01/01/2015 and 31/12/2019
• Major subject not having expressed, after information, the reuse of his data for the purposes of this research
• Child and holders of parental authority who have not expressed, after information, the reuse of their data for the purposes of this research

Exclusion criteria:

• Subject (or his parental authority if he is a minor) who has expressed his opposition to participating in the study
• Subject not residing in France
• Subject of foreign nationality
• Subject under tutorship or curatorship
• Subject under safeguard of justice