Barakat syndrome

Barakat syndrome (also HDR syndrome) is an extremely rare genetically determined disorder with a broad spectrum of manifestations. The cause is a genetic mutation located in a gene on chromosome 10. The frequency of occurrence is unknown; the syndrome is very rare. The inheritance pattern is likely autosomal dominant.

Diagnosis: 

The diagnosis is established through genetic testing. Genetic testing should be considered for siblings of affected children and for patients with various abnormalities of the urinary tract.

Treatment: 

Prevention or treatment of the syndrome itself is not possible. However, the symptoms of the syndrome can be treated — the main focus is to preserve kidney function for as long as possible. If kidney function is completely lost, dialysis or kidney transplantation is necessary.

• postihnutie močového systému a obličiek rôzneho rozsahu, ktoré môže viesť k ich nedostatočnej funkcii a zlyhávaniu – vyskytuje sa napríklad nefrotický syndróm a početnejšie obličkové cysty, vesikouretrálny reflux. V najzávažnejších prípadoch sa nemusia obličky vyvinúť vôbec.
• hypoparathyreoidizmus (znížená funkcia prištítnych teliesok) a z toho vyplývajúce poruchy v metabolizme vápnika. Je prítomná nižšia hladina vápnika, čo sa prejavuje kŕčmi, tetániou
• postihnutie sluchu v rôznom rozsahu