Reverse Phenotyping Maternal Cystic Kidney Disease by Diagnosis in a Newborn: Case Report and Literature Review on Neonatal Cystic Kidney Diseases

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: HNF1B; diabetes; family history; kidney cysts.

Figure 1.

Patient kidney ultrasound. Increased echogenicity of the renal parenchyma on both sides, poor corticomedullary differentiation, thickened parenchyma, small multiple cysts in the parenchyma from immeasurable to 0.6 cm. The size of both kidneys 5 × 2.1 cm.

Figure 2.

Detection of the pathogenic variant of HNF1B gene (NM_000458.4). a) Molecular analysis presenting variant c.827G>A (p.(Arg276Gln), CM060488 in HNF1B in a patient’s DNA from targeted NGS in Integrative Genomics Viewer (IGV). Sanger sequencing analysis revealed a presence of heterozygous HNF1B gene variant c.827G>A for the patient (b) and her mother (c). Arrow indicates variant site.

Figure 3.

Hepatocyte nuclear factor 1-beta (HFN1B) protein structure homology model created using SWISS-MODEL web-based integrated service. A) Mutated protein with glutamine amino acid at 276 position. B) Wild type protein with arginine amino acid at 276 position.