Glomerulocystic Kidney Disease and Hepatoblastoma in an Infant: A Rare Presentation
نویسندگان
چکیده
Glomerulocystic kidney disease (GCKD) is a rare condition comprising heritable and non-heritable types [Oh et al.: Nephron 1986;43:299-302]. Hepatoblastoma is a sporadically occurring tumor of embryonal origin that is associated with overgrowth syndrome and renal cysts. A concurrent presentation of GCKD with hepatoblastoma was first described in 1989 [Rao et al.: Jpn J Surg 1989;19:583-585]. We report the simultaneous presentation of hepatoblastoma and GCKD in a 5-month-old child and explore the probability of insulin-like growth factors, insulin-like growth factor-binding protein and Beckwith-Wiedemann gene mutation as a putative cause.
منابع مشابه
Glomerulocystic Kidney Disease and its rare associations: an autopsy report of two unrelated cases
BACKGROUND Glomerulocystic kidney disease is an uncommon type of cystic renal disease. It is characterized by cortical microsysts, which are represented by cystic dilatation of Bowman's spaces. CASE PRESENTATION We describe a case of glomerulocystic disease in a neonate and another in an abortus associated with tracheo-oesophageal fistula and megacystic-megaureter syndrome. The kidney on auto...
متن کاملSilent Tachypnoea in a Neonate: A Rare Presentation of Right Side Bochdalek Hernia with Intrathoracic Kidney
Congenital diaphragmatic hernia (CDH) is a rare condition. The reported incidence of intrathoracic renal ectopia due to CDH is also rare. A right-sided thoracic kidney is much less common due to the location of the liver. Isolated intrathoracic kidney is usually asymptomatic and diagnosed incidentally on chest imaging. The authors report on a 21days old female infant with late-presenting right ...
متن کاملGlomerulocystic disease
Glomerulocystic disease is a rare cause of cystic kidney diseases and can occur at any age. It is characterized by cystic dilatation of the Bowman's capsule and normal tubules, and needs to be differentiated from other cystic renal diseases. It commonly presents as renal failure. We present a case of a 52-year-old female, with renal failure who was subsequently found to have glomerulocystic dis...
متن کاملUnusual Presentation of Splenogonadal Fusion in a 7-Month-Old Male Infant
Introduction: Splenogonadal fusion is a rare congenital anomaly characterized with anomalous fusion of the spleen and the gonad or mesonephric derivatives. Herein, we report the case of a 7-month-old boy with unusual presentation of splenogonadal fusion. Case Presentation</...
متن کاملA Novel Mutation of the HNF1B Gene Associated With Hypoplastic Glomerulocystic Kidney Disease and Neonatal Renal Failure
Hepatocyte nuclear factor 1 beta (HNF1B) plays an important role in embryonic development, namely in the kidney, pancreas, liver, genital tract, and gut. Heterozygous germline mutations of HNF1B are associated with the renal cysts and diabetes syndrome (RCAD). Affected individuals may present a variety of renal developmental abnormalities and/or maturity-onset diabetes of the young (MODY). A Po...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره 5 شماره
صفحات -
تاریخ انتشار 2015