Reverse Phenotyping Maternal Cystic Kidney Disease by Diagnosis in a Newborn: Case Report and Literature Review on Neonatal Cystic Kidney Diseases
Open Access
- 29 July 2021
- journal article
- review article
- Published by Vilnius University Press in Acta medica Lituanica
- Vol. 28 (2), 5
- https://doi.org/10.15388/amed.2021.28.2.5
Abstract
Kidney cysts are the most common kidney lesion, while congenital kidney cysts are mostly found in pediatric population. Neonatal kidney cysts can develop due to fetal malformations, rare genetic disorders or can be acquired which is very rare. Kidney cysts may be the only isolated finding or be part of the overall phenotype. They can be asymptomatic, found by ultrasound accidentally or can manifest from mild to life-threatening symptoms. Therefore, early diagnosis is very important. Autosomal dominant polycystic kidney disease and autosomal recessive polycystic kidney disease are the most common causes of kidney cysts in the neonatal population. This review highlights the most common kidney cystic diseases during the neonatal period and a rare clinical case of HNF1B-associated disease.Keywords
This publication has 30 references indexed in Scilit:
- TCF2/HNF-1beta mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia and multicystic renal dysplasiaPrenatal Diagnosis, 2013
- Neonatal Effects of Magnesium Sulfate Given to the MotherAmerican Journal of Perinatology, 2012
- Long-term risk of chronic kidney disease in unilateral multicystic dysplastic kidneyPediatric Nephrology, 2011
- Spectrum of HNF1B Mutations in a Large Cohort of Patients Who Harbor Renal DiseasesClinical Journal of the American Society of Nephrology, 2010
- Anomalies of the TCF2 Gene Are the Main Cause of Fetal Bilateral Hyperechogenic KidneysJournal of the American Society of Nephrology, 2007
- Unilateral multicystic dysplastic kidney: long term outcomesArchives of Disease in Childhood, 2006
- Clinical and Molecular Characterization Defines a Broadened Spectrum of Autosomal Recessive Polycystic Kidney Disease (ARPKD)Medicine, 2006
- Mutations in hepatocyte nuclear factor-1 and their related phenotypesJournal of Medical Genetics, 2005
- Expression of the vHNF1/HNF1β homeoprotein gene during mouse organogenesisMechanisms of Development, 1999
- Dominant and recessive polycystic kidney disease in children: Classification by intravenous pyelography, ultrasound, and computed tomographyPediatric Radiology, 1988