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Article

A case of HDR syndrome coexisting with tetralogy of Fallot, with a novel GATA3 mutation, which manifested as a renal abscess.

CEN case reports - 1 May 2021

Ikeuchi Mayo, Kiyota Kyoko, Itonaga Tomoyo, Kawano-Matsuda Fumika, Ohata Yasuhisa, Fujiwara Makoto, Kubota Takuo, Ozono Keiichi, Ihara Kenji

Abstract excerpt

HDR syndrome is characterized by the triad of primary hypoparathyroidism, sensorineural hearing loss and renal malformation with widely variable manifestations. It is an autosomal dominant inherited disease caused by a mutation of the GATA3 (NM_001002295.2), which is located on chromosome 10p14. Congenital heart disease, such as tetralogy of Fallot, a typical complication of DiGeorge syndrome, is a rare...

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Identifiers

PMID: 33159669
DOI: 10.1007/s13730-020-00551-0
PMCID: PMC8019435

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