[MIM 146 255]

(Barakat syndrome, HDR syndrome)

Very rare. A dozen cases described. In the majority of cases: autosomal dominant transmission of mutations of the  GATA3 gene (10p14-p15.1). The disease can be revealed at any age by hypocalcemia, tetanus, or afebrile convulsions. Deafness is generally bilateral and can be mild to very disabling. Signs of the renal involvement include nephrotic syndrome, cystic dysplasia of the kidney, hypoplasia or renal aplasia, vesicoureteral reflux, chronic renal failure, hematuria, proteinuria or fibrosis.

There may also be more or less profound mental retardation, congenital heart disease, hypogonadotrophic hypogonadism or retinitis pigmentosa.

Anesthetic implications: 

check renal function and calcemia; hearing-impaired patient

References : 

-         Barakat AJ, Raygada M, Rennert OM. 
Barakat syndrome revisited. 
Am J Med Genet 2018 ; 176A: 1341-8.

Updated: January 2021