ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 16 Issue: 1 Year: 2024
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Turkish Society for Pediatric Endocrinology and Diabetes
A Further Case of Hajdu-Cheney Syndrome Having a Novel Mutation in the NOTCH2 Gene [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2015; 7(2): 74-74

A Further Case of Hajdu-Cheney Syndrome Having a Novel Mutation in the NOTCH2 Gene

Ayşe Nur Kavasoğlu1, Hüseyin Onay1, Mehmet Argın2, Ferda Özkınay1
1Ege University Faculty Of Medicine, Department Of Medical Genetics, Izmir, Turkey
2Ege University Faculty Of Medicine, Department Of Radiology, Izmir, Turkey

Introduction: Hypoparathyroidism-Deafness-Renal Disease (HDR) syndrome is a rare autosomal dominant genetic disorder that is characterized by a triad of conditions, namely hypoparathyroidism, sensorineural deafness, and renal disease. We, here, present the first Turkish case with HDR syndrome.
Case: A two-month-old boy was referred with convulsion related to hypocalcaemia. The patient was born at 39 gestational weeks by vaginal delivery after unremarkable pregnancy. There was no family history of deafness or renal insufficiency. Physical examination findings were unremarkable. His body weight, length, and head circumference were 4470 g (25th p), 59 cm (50th p), and 39 cm (50th p), respectively. Laboratory studies showed BUN 17.7 mg/dL; creatinine (Cr) 1.3 mg/dL; sodium 140 mmol/L; potassium 4.6 mmol/L; calcium (Ca) 6.4 mg/dL; phosphorus 7.2 mg/dL; alkaline phosphatase 408 U/L; magnesium 1.8 mg/dL; parathyroid hormone 7 pg/mL, and 25-hydroxy vitamin D 28.3 ng/mL. Urogram revealed urine density of 1007; pH 6.5; protein (+2); glucose (-), and ketone (-). Spot urine Ca/Cr was 0.01. Hemogram and blood gas analysis were unremarkable. There was thymus tissue on the neck ultrasonography (USG). Urinary USG and DTPA were normal. The brainstem-evoked response audiometry work was normal. The convulsion related to hypocalcaemia was controlled with intravenous Ca gluconate therapy followed by 50 mg/kg/day elementary Ca lactate and 0.25 mg/day calcitriol. Serum Cr level and proteinuria on urogram persisted as 0.8-1.2 mg/dL and trace, respectively. A nonsense mutation (R367X; CGA>TGA) in the GATA3 gene was found. The patient is followed for renal and hearing functions.

Keywords: Hajdu-Cheney, NOTCH2, acroosteolysis

Ayşe Nur Kavasoğlu, Hüseyin Onay, Mehmet Argın, Ferda Özkınay. A Further Case of Hajdu-Cheney Syndrome Having a Novel Mutation in the NOTCH2 Gene. J Clin Res Pediatr Endocrinol. 2015; 7(2): 74-74
Manuscript Language: English
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