Autosomal Recessive Polycystic Kidney Disease: Antenatal Diagnosis and Histopathological Correlation

被引:8
作者
Rajanna, Dayananda Kumar
Reddy, Anjani
Srinivas, Naren Satya
Aneja, Ankur
机构
[1] Department of Radiology, MVJ Medical College and Research Hospital, Karnataka
[2] Department of Pathology, MVJ Medical College and Research Hospital, Karnataka
关键词
Antenatal; autosomal recessive polycystic kidney disease; hepatic fibrosis; placentomegaly;
D O I
10.4103/2156-7514.109733
中图分类号
R8 [特种医学]; R445 [影像诊断学];
学科分类号
1002 ; 100207 ; 1009 ;
摘要
Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common inheritable disease manifesting in infancy and childhood with a frequency of 1:6,000 to 1:55,000 births. The patient in her second trimester presented with a history of amenorrhea. Ultrasound examination revealed bilateral, enlarged, hyperechogenic kidneys, placentomegaly, and severe oligohydramnios. The pregnancy was terminated. An autopsy was performed on the fetus. Both the kidneys were found to be enlarged and the cut surface showed numerous cysts. The liver sections showed changes due to fibrosis. The final diagnosis of autosomal recessive polycystic kidney disease was made based on these findings. In this article, we correlate the ante-natal ultrasound and histopathological findings in autosomal recessive polycystic kidney disease.
引用
收藏
页数:6
相关论文
共 8 条
[1]   Renal cystic diseases - A review [J].
Bisceglia, M ;
Galliani, CA ;
Senger, C ;
Stallone, C ;
Sessa, A .
ADVANCES IN ANATOMIC PATHOLOGY, 2006, 13 (01) :26-56
[2]   POLYCYSTIC DISEASE OF KIDNEYS AND LIVER PRESENTING IN CHILDHOOD [J].
BLYTH, H ;
OCKENDEN, BG .
JOURNAL OF MEDICAL GENETICS, 1971, 8 (03) :257-+
[3]   The Spectrum of Polycystic Kidney Disease in Children [J].
Dell, Katherine MacRae .
ADVANCES IN CHRONIC KIDNEY DISEASE, 2011, 18 (05) :339-347
[4]  
LOIRAT C, 1994, NEPHROL DIAL TRANSPL, V9, P26
[5]   PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats [J].
Onuchic, LF ;
Furu, L ;
Nagasawa, Y ;
Hou, XY ;
Eggermann, T ;
Ren, ZY ;
Bergmann, C ;
Senderek, J ;
Esquivel, E ;
Zeltner, R ;
Rudnik-Schöneborn, S ;
Mrug, M ;
Sweeney, W ;
Avner, ED ;
Zerres, K ;
Guay-Woodford, LM ;
Somlo, S ;
Germino, GG .
AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 70 (05) :1305-1317
[6]  
Pediatric and stage renal disease: United States Renal Data System, 1998, AM J KIDNEY DIS, V32, P98
[7]   Diagnosis and management of childhood polycystic kidney disease [J].
Sweeney, William E., Jr. ;
Avner, Ellis D. .
PEDIATRIC NEPHROLOGY, 2011, 26 (05) :675-692
[8]  
Zerres K, 1997, CONTRIB NEPHROL, V122, P10