A Case Report of Familial HDR Syndrome

Öz

HDR Syndrome is a rare disease that is inherited autosomal dominantly characterized by a triad of hypoparathyroidism, sensorineural hearing impairment and renal dysplasia. This syndrome is caused by haploinsufficiency of GATA3 gene. We report a family in which two sisters and the father diagnosed with HDR Syndrome because of having hypoparathyroidism and sensorineural deafness. One of these patients had an arachnoid cyst in the left temporal region and cerebellar tonsillar ectopy. The father had horseshoe kidney. A heterozygous GATA3 gene variant (NM_001002295.1 c.1099C>T (p.R367X)) were showed in the sisters. By presenting this case, the clinical and genetic features of HDR Syndrome are reviewed.

Anahtar Kelimeler

• Deafness;
• hypoparathyroidism
• renal dysplasia

Ailesel HDR Sendromu olgu sunumu

Öz

HDR Sendromu, hipoparatiroidizm, sensörinöral işitme bozukluğu ve böbrek displazisi triadı ile karakterize, nadir görülen otozomal dominant geçişli bir hastalıktır. Bu sendrom, GATA3 geninin haplo yetersizliğinden kaynaklanır. Burada iki kız kardeşte ve babalarında hipoparatiroidizm ve sensörinöral sağırlık saptanması nedeniyle HDR Sendromu tanısı konulan bir aile sunulmuştur. Kardeşlerden birinde sol temporal bölgede araknoid kist ve serebellar tonsiller ektopi, babada at nalı böbrek vardı. Her iki kız kardeşte heterozigot GATA3 gene varyantı (NM_001002295.1 c.1099C> T (p.R367X)) saptandı. Bu olgu sunularak HDR Sendromunun klinik ve genetik özellikleri gözden geçirilmiştir.

Anahtar Kelimeler

• hipoparatiroidi
• renal displazi
• sağırlık
• sendrom

Kaynakça

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