지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2014.1
- 수록면
- 74 - 78 (5page)
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Sotos syndrome (SS, OMIM 117550) is characterized by prenatal and postnatal overgrowth with multiple congenital anomalies. However, there have been few cases of growth retardation caused by renal failure from infancy. We report a case of dysplasia of the bilateral kidneys with renal failure and poor postnatal growth. A 2-month-old boy visited the emergency room owing to poor oral intake and abdominal distension. He was born at the gestational age of 38 weeks with a birth weight of 4,180 g. After birth, he had feeding difficulty and abdominal distension. Upon physical examination, his height and weight were in less than the 3rd percentile, while his head circumference was in the 50th percentile on the growth curve. He also showed a broad and protruding forehead and high hairline. Blood laboratory tests showed severe azotemia; emergent hemodialysis was needed. Abdominal ultrasonography revealed bilateral renal dysplasia with multiple cysts and diffuse bladder wall thickening. A posterior urethral valve was suggested based on vesicoureterography and abdominal magnetic resonance findings. Results of a colon study to rule out congenital megacolon did not reveal any specific findings. The conventional karyotype of the patient was 46, XY. Array comparative genomic hybridization study revealed a chromosome 5q35 microdeletion including the NSD1 gene, based on which SS was diagnosed. We describe a case of SS presenting with end stage renal disease due to posterior urethral valve. The typical somatic overgrowth of SS in the postnatal period was not observed due to chronic renal failure that started in the neonatal period.
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참고문헌 (19)
참고문헌 신청
Cole TR / 1994 / Sotos syndrome: a study of the diagnostic criteria and natural history / J Med Genet 31:20~32
Vilchis Z / 2014 / The high frequency of genetic diseases in hypotonic infants referred by neuropediatrics / Am J Med Genet A 164:1702~1705
Kurotaki N / 2002 / Haploinsufficiency of NSD1 causes Sotos syndrome / Nat Genet 30:365~366
Nagai T / 2003 / Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions / J Med Genet 40:285~289
Tatton-Brown K / 2005 / Childhood Overgrowth Collaboration. Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations / Am J Hum Genet 77:193~204
Vilchis Z / 2014 / The high frequency of genetic diseases in hypotonic infants referred by neuropediatrics / Am J Med Genet A 164:1702~1705
Kurotaki N / 2002 / Haploinsufficiency of NSD1 causes Sotos syndrome / Nat Genet 30:365~366
Nagai T / 2003 / Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions / J Med Genet 40:285~289
Tatton-Brown K / 2005 / Childhood Overgrowth Collaboration. Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations / Am J Hum Genet 77:193~204
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