HDR syndrome in a Japanese girl with biliary atresia: a case report

BMC Pediatrics
Yousuke HiguchiHirokazu Tsukahara

Abstract

Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is an autosomal dominant disorder. We report the first detailed case of hypoparathyroidism complicated by biliary atresia. A 1-year-old Japanese girl was admitted to our hospital for living donor liver transplantation. She suffered from obstructive jaundice owing to biliary atresia. She also had persistent hypocalcemia. Despite oral calcium and abundant vitamin D supplementation, a laboratory test showed hypocalcemia (1.4 mmol/l) and hyperphosphatemia (2.6 mmol/l). The intact parathyroid hormone level was normal (66 ng/l) with severe vitamin D deficiency (25-hydroxy vitamin D: undetectable levels). There were no rachitic changes in metaphysis on X-rays. Her family history showed that her mother had sensorineural deafness, a low serum calcium level (2.1 mmol/l), hypoplastic left kidney, and a past history of an operation for right vesicoureteral reflux. We suspected that this patient and her mother have hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome. A heterozygous GATA3 gene mutation (c.736delGinsAT) was found in this patient and her mother, but not in her father. This familial case confirms the importance of family history ...Continue Reading

References

Aug 1, 1974·Archives of Disease in Childhood·A KobayashiY Obe
Feb 7, 1998·American Journal of Medical Genetics·T HasegawaY Fukushima
Feb 27, 2004·The Journal of Biological Chemistry·M Andrew NesbitRajesh V Thakker
Jul 20, 2007·The New England Journal of Medicine·Michael F Holick
Jul 25, 2008·The New England Journal of Medicine·Dolores Shoback
Feb 28, 2009·American Journal of Medical Genetics. Part a·Silvio FerrarisAlberto Ponzone
Jun 9, 2009·Journal of Bone and Mineral Metabolism·Dov Tiosano, Ze'ev Hochberg
May 13, 2014·BoneKEy Reports·Francis H Glorieux, John M Pettifor

❮ Previous
Next ❯

Citations

Dec 27, 2018·Current Opinion in Gastroenterology·Muriel Girard, Ganna Panasyuk
Oct 25, 2017·Pediatric Surgery International·Alexandra Kilgore, Cara L Mack
Apr 18, 2018·American Journal of Medical Genetics. Part a·Amin J BarakatOwen M Rennert

❮ Previous
Next ❯

Methods Mentioned

BETA
X-ray
PCR

Related Concepts

Related Feeds

Blood And Marrow Transplantation

The use of hematopoietic stem cell transplantation or blood and marrow transplantation (bmt) is on the increase worldwide. BMT is used to replace damaged or destroyed bone marrow with healthy bone marrow stem cells. Here is the latest research on bone and marrow transplantation.

Auditory Perception

Auditory perception is the ability to receive and interpret information attained by the ears. Here is the latest research on factors and underlying mechanisms that influence auditory perception.