The Utility of Antenatal Ultrasound in intrauterine Early Diagnosis of an Autosomal recessive Polycystic Kidney Disease in Fetus
Keywords:
Polycystic, Kidney, Ultrasound, Antenatal Diagnosis, Genetics
Abstract
We report a case of a 31 year old female. Ultrasound examination showed bilateral hyperechoic kidneys with multiple cysts and poor corticomedullary differentiation. The kidneys were increased in size and color Doppler showed normal bilateral renal arteries present. Amniocentesis was performed and the fetal chromosomal analysis highlighted an inversion at the 6p12.2. Further genetic investigations were done. Both parents were karyotiped and showed an inversion at the 6p12.2, typically for the PKHD1 gene location. After genetical councelling the parents decided to terminate the pregnancy. The autopsy confirmed the ultrasound findings.
Downloads
Download data is not yet available.
References
1. Lonergan GJ, Rice RR, Suarez ES. Autosomal recessive polycystic kidney disease: Radiologicpathologic correlation. RadioGraphics. 2000;20:837–55.
2. Traubici J, Daneman A. High-resolution renal sonography in children with autosomal recessive polycystic kidney disease. Am J Roentgenol. 2005;184(5):1630–3.
3. Igarashi P, Somlo S. Genetics and pathogenesis of polycystic kidney disease. J Am Soc Nephrol.2002;13:2384–98.
4. Adeva M, El-Youssef M, Rossetti S, Kamath PS, Kubly V, Consugar MB, Milliner DM, King BF, Torres VE, Harris PC. Clinical and molecular characterization
defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). Medicine (Baltimore). 2006 Jan;85(1):1-21.
5. Zerres K, Mücher G, Becker J, Steinkamm C, Rudnik-Schöneborn S, Heikkilä P, et al. Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): Molecular genetics, clinical experience, and fetal morphology. Am J Med Genet. 1998;76:137–144, 1998.
6. Albu, D., Albu, C. and Oncescu, A. (2013), P06.09: Prenatal ultrasound and genetic diagnosis of an autosomal recessive polycystic kidney disease associated with Klinefelter syndrome: rare case report. Ultrasound Obstet Gynecol, 42: 135. doi: 10.1002/uog.12990
7. Menezes LF1, Onuchic LF. Molecular and cellular pathogenesis of autosomal recessive polycystic kidney disease. Braz J Med Biol Res. 2006 Dec;39(12):1537-48.
8. Kaplan BS, Kaplan P, de Chadarevian J-P, Jequier S, O’Regan S, Russo P: Variable expression of autosomal recessive polycystic kidney disease and congenital
hepatic fibrosis within a family. Am J Med Genet 29: 639–647,1988.
9. Nakanishi K, Sweeney WE, Jr., Zerres K, Guay-Woodford LM, Avner ED: Proximal tubular cysts in fetal human autosomal recessive polycystic kidney disease. J Am Soc Nephrol 11: 760–763, 2000.
10. Guay-Woodford LM, Muecher G, Hopkins SD, Avner ED, Germino GG, Guillot AP, Herrin J, Holleman R, Irons DA, Primack W, Thomson PD, Waldo FB, Lunt PW, Zerres K: The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.I-p12: Implications for genetic counseling. Am J Hum Genet 56: 1101–
1107, 1995.
11. Dayananda Kumar Rajanna, Anjani Reddy, Naren Satya Srinivas, and Ankur Aneja. Autosomal Recessive Polycystic Kidney Disease: Antenatal Diagnosis and
Histopathological Correlation. J Clin Imaging Sci. 2013;3: 13
2. Traubici J, Daneman A. High-resolution renal sonography in children with autosomal recessive polycystic kidney disease. Am J Roentgenol. 2005;184(5):1630–3.
3. Igarashi P, Somlo S. Genetics and pathogenesis of polycystic kidney disease. J Am Soc Nephrol.2002;13:2384–98.
4. Adeva M, El-Youssef M, Rossetti S, Kamath PS, Kubly V, Consugar MB, Milliner DM, King BF, Torres VE, Harris PC. Clinical and molecular characterization
defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). Medicine (Baltimore). 2006 Jan;85(1):1-21.
5. Zerres K, Mücher G, Becker J, Steinkamm C, Rudnik-Schöneborn S, Heikkilä P, et al. Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): Molecular genetics, clinical experience, and fetal morphology. Am J Med Genet. 1998;76:137–144, 1998.
6. Albu, D., Albu, C. and Oncescu, A. (2013), P06.09: Prenatal ultrasound and genetic diagnosis of an autosomal recessive polycystic kidney disease associated with Klinefelter syndrome: rare case report. Ultrasound Obstet Gynecol, 42: 135. doi: 10.1002/uog.12990
7. Menezes LF1, Onuchic LF. Molecular and cellular pathogenesis of autosomal recessive polycystic kidney disease. Braz J Med Biol Res. 2006 Dec;39(12):1537-48.
8. Kaplan BS, Kaplan P, de Chadarevian J-P, Jequier S, O’Regan S, Russo P: Variable expression of autosomal recessive polycystic kidney disease and congenital
hepatic fibrosis within a family. Am J Med Genet 29: 639–647,1988.
9. Nakanishi K, Sweeney WE, Jr., Zerres K, Guay-Woodford LM, Avner ED: Proximal tubular cysts in fetal human autosomal recessive polycystic kidney disease. J Am Soc Nephrol 11: 760–763, 2000.
10. Guay-Woodford LM, Muecher G, Hopkins SD, Avner ED, Germino GG, Guillot AP, Herrin J, Holleman R, Irons DA, Primack W, Thomson PD, Waldo FB, Lunt PW, Zerres K: The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.I-p12: Implications for genetic counseling. Am J Hum Genet 56: 1101–
1107, 1995.
11. Dayananda Kumar Rajanna, Anjani Reddy, Naren Satya Srinivas, and Ankur Aneja. Autosomal Recessive Polycystic Kidney Disease: Antenatal Diagnosis and
Histopathological Correlation. J Clin Imaging Sci. 2013;3: 13
CITATION
DOI: 10.17511/ijmrr.2015.i1.18
Published: 2015-02-28
How to Cite
1.
Albu D-F, Albu C-C, Albu S-D. The Utility of Antenatal Ultrasound in intrauterine Early Diagnosis of an Autosomal recessive Polycystic Kidney Disease in Fetus. Int J Med Res Rev [Internet]. 2015Feb.28 [cited 2024Nov.8];3(1):112-4. Available from: https://ijmrr.medresearch.in/index.php/ijmrr/article/view/192
Section
Original Article
OAI - Open Archives Initiative
