Niedoczynność przytarczyc, niedosłuch czuciowo-nerwowy i choroby nerek - zespół Barakata u 10-miesięcznego niemowlęcia - opis przypadku

We present a case of a 10-month-old boy admitted to our Department. In the prenatal period he was diagnosed with right-sided hydronephrosis due to congenital IV/V˚ vesicoureteral reflux. In newborn period, he presented hypocalcemic convulsions due to hypoparathyroidism (total Ca 1.12 mmol/l, PTH 0.7 pg/ml). Although he failed newborn screening hearing test, he was not further diagnosed until we commissioned audiologic examination which revealed bilateral mild sensorineural deafness. Final diagnosis of Barakat syndrome was confirmed by finding a new mutation in the GATA3 gene (c.1047+1G>A). The patient is now under the care of multiple specialists (endocrinologist, audiologist, urologist). A supplementation of calcium and vitamin D3 was introduced as a treatment for hypoparathyroidism, repeated injections around ureteral openings as a treatment of urologic malformations. The audiologists introduced hearing rehabilitation.