Reverse Phenotyping Maternal Cystic Kidney Disease by Diagnosis in a Newborn: Case Report and Literature Review on Neonatal Cystic Kidney Diseases
Case studies
Dovilė Ruzgienė
Faculty of Medicine, Vilnius University, Lithuania; Vilnius University Hospital Santaros Klinikos
Meda Sutkevičiūtė
Faculty of Medicine, Vilnius University, Lithuania; Vilnius University Hospital Santaros Klinikos
Birutė Burnytė
Faculty of Medicine, Vilnius University, Lithuania; Vilnius University Hospital Santaros Klinikos
Kristina Grigalionienė
Faculty of Medicine, Vilnius University, Lithuania; Vilnius University Hospital Santaros Klinikos
Augustina Jankauskienė
Faculty of Medicine, Vilnius University, Lithuania; Vilnius University Hospital Santaros Klinikos
Published 2021-08-02
https://doi.org/10.15388/Amed.2021.28.2.5
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Keywords

kidney cysts
HNF1B
diabetes
family history

How to Cite

Ruzgienė D., Sutkevičiūtė M., Burnytė B., Grigalionienė K. and Jankauskienė A. (2021) “Reverse Phenotyping Maternal Cystic Kidney Disease by Diagnosis in a Newborn: Case Report and Literature Review on Neonatal Cystic Kidney Diseases”, Acta medica Lituanica, 28(2), p. 5. doi: 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.

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