- Autosomal Recessive Polycystic Kidney Disease Confirmed to PKHD1 Gene Mutation: A Case of PKHD1 Gene Mutation
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Baek JE, Lee SM, Eun HS, Park MS, Park KI, Namgung R, Lee C
- KMID: 2312960
- Neonatal Med.
- 2014 Feb;21(1):64-68.
Autosomal recessive polycystic kidney disease (ARPKD) is a severe form of polycystic kidney disease that is characterized by enlarged kidneys and congenital hepatic fibrosis. The clinical spectrum of this condition... -
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- Pulmonary hypertension in a child with juvenile-type autosomal recessive polycystic kidney disease
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Huh J, Noh CI, Choi JY, Yun YS, Choi Y, Seo JK
- KMID: 1731322
- J Korean Med Sci.
- 1999 Aug;14(4):451-454.
- doi: 10.3346/jkms.1999.14.4.451
An 11 year-old girl, whose condition was diagnosed as juvenile-type autosomal recessive polycystic kidney disease (ARPKD) at five years of age, presented with chest pain and dyspnea that had developed... -
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- Caroli Syndrome with Autosomal Recessive Polycystic Kidney Disease
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Ko JS
- KMID: 991470
- Korean J Gastroenterol.
- 2011 Jan;57(1):51-53.
- doi: 10.4166/kjg.2011.57.1.51
No abstract available. -
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- Caroli's Syndrome with Autosomal Recessive Polycystic Kidney Disease in a Two Month Old Infant
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Kim JT, Hur YJ, Park JM, Kim MJ, Park YN, Lee JS
- KMID: 1715883
- Yonsei Med J.
- 2006 Feb;47(1):131-134.
- doi: 10.3349/ymj.2006.47.1.131
Caroli's syndrome is a rare congenital disorder that involves intrahepatic bile duct ectasia and congenital hepatic fibrosis, frequently seen with concomitant autosomal recessive polycystic kidney disease (ARPKD). Literature on infants... -
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- A case of prenatally diagnosed fetal unilateral multicystic dysplastic kidney with contralateral autosomal recessive polycystic kidney
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Kim SY, Lee HW, Jung E
- KMID: 2273250
- Korean J Obstet Gynecol.
- 2008 Feb;51(2):236-240.
Multicystic dysplastic kidney (MCDK) is an incidental finding on prenatal ultrasound examination and this abnormality may be unilateral or bilateral. In approximately 20-50 % of case, there are also abnormalities... -
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- Newly Detected PKHD1 Gene Mutation in a Newborn with Fatal Autosomal Recessive Polycystic Kidney Disease
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Byun YJ, Do HJ, Oh SH, Kim CJ, Lee BH, Kim GH, Lee BS, Kim KS, Kim AR
- KMID: 2130691
- Neonatal Med.
- 2015 Nov;22(4):217-222.
- doi: 10.5385/nm.2015.22.4.217
Autosomal recessive polycystic kidney disease is among the most common inherited ciliopathies and is caused by mutations in the polycystic kidney and hepatic disease 1 (PKHD1) gene. Despite its great... -
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- Longterm Follow-up of Autosomal Recessive Polycystic Kidney Disease
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Huh J, Ha IS, Cheong HI, Seo JK, Choi Y
- KMID: 2104440
- J Korean Pediatr Soc.
- 1998 Dec;41(12):1693-1699.
PURPOSE: This study was aimed to assess the clinical manifestations and courses of autosomal recessive polycystic kidney disease (ARPKD). METHODS: The medical records of 10 children diagnosed as infantile or... -
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- Four Cases of Autosomal Recessive Polycystic Kidney Disease
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Choi WK, Lee SC, Park YW, Lee CG
- KMID: 1540815
- J Korean Soc Pediatr Nephrol.
- 1997 May;1(1):91-96.
Endometrial papillary serous carcinoma (EPSC) is a distinct variant of endometrial adenocarcinoma that histologically resembles ovarian serous papillary adenocarcinoma and has an aggressive clinical course. Usually, the tumor is diagnosed... -
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- Two Cases of Congenital Hepatic Fibrosis with Polycystic Kidney Disease
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Lee DH, Kong ON, Kim JY, Park CW, Moon JH, Nam DG, Chu HJ, Kang DH, Song GA, Cho M, Yang US
- KMID: 2241237
- Korean J Hepatol.
- 2001 Dec;7(4):485-490.
Congenital hepatic fibrosis (CHF) is a rare developemental abnormality, which is characterized pathologically by periportal fibrosis with irregularly shaped proliferating bile ducts. In most, if not all, cases CHF is... -
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- Incidence and outcome of congenital anomalies of the kidney and urinary tract detected by prenatal ultrasonography: a single center study
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Lim G, Lee JH, Park YS, Kim KS, Won HS
- KMID: 2281747
- Korean J Pediatr.
- 2009 Apr;52(4):464-470.
- doi: 10.3345/kjp.2009.52.4.464
PURPOSE: This study assessed the incidence and outcome of congenital anomalies of the kidney and urinary tract (CAKUT) detected by prenatal ultrasonography METHODS: There were 906 cases of CAKUT detected... -
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