Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a GATA3 mutation

Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome is an autosomal dominant disease caused by mutations in the GATA3 gene on chromosome 10p15. We identified a patient diagnosed with hypoparathyroidism who also had a family history of hypoparathyroidism and sensorineural deafness, present in the father. The patient was subsequently diagnosed and found to be a heterozygote for an insertion mutation c.255_256ins4 (GTGC) in exon 2 of GATA3. His father was also confirmed to have the same mutation in GATA3.

Extra-renal anomalies associated with fetal renal dysgenesis / 대한산부인과학회지

OBJECTIVE: The purpose of this study is to evaluate other anomalies associated with the fetal renal dysgenesis and prognosis. METHODS: Level II sonography were reviewed in the pregnant women who had been diagnosed with fetal renal dysgenesis antenatally from March 1998 to February 2005. Diagnosis was comfirmed by the autopsy or the postnatal studies including sonographic and radiologic evaluation. RESULTS: Thirty fetuses had a fetal renal dysgenesis. There were 2 cases of polycystic kidney, 4 cases of bilateral renal agenesis, 4 cases of unilateral renal agenesis, 3 cases of bilateral multicystic dysplastic kidney and 17 cases of unilateral multicystic dysplastic kidney. The common associated anomalies were congenital heart disease (7 cases), single umbilical artery (5 cases), imperforate anus (2 cases) and tracheo-esophageal fistula (2 cases). Hypospadia and scoliosis with hemivertebra were also noted. CONCLUSION: The most common anomaly associated with renal dysgenesis was congenital heart diseases. If fetal renal dysgenesis is detected antenatally, fetal echocardiography should be performed.