Renal cystic disease (RCD) can occur in a variety of conditions and manifest in utero, during infancy, or throughout childhood and adolescence. Overall, the incidence of RCD may range from 0.44 cases/10,000 births in neonatal-onset hereditary polycystic kidney disease to 4.1 cases/10,000 births in sporadic cystic kidney disease. Some RCD is life-threatening and may progress to chronic kidney disease (CKD) and liver disease. Given the prevalence and serious complications of these diseases in vulnerable populations, it is critical that healthcare providers identify these diseases early and provide effective management.

RCDs can be conceptually grouped in a variety of ways. The classification of Liapis and Vineyards is the most frequently mentioned system used to organize RCDs. Alternatively, we can distinguish between hereditary and sporadic RCDs, or between dysplasia and ciliopathies, the latter encompassing hepatorenal fibrocystic diseases (HRFCDs). In general, hereditary RCDs are a common cause of pediatric renal failure. The most prominent RCD members are autosomal recessive polycystic kidney disease (ARPKD), autosomal dominant polycystic kidney disease (ADPKD), glomerular cystic kidney disease, Bardet-Biedl syndrome (BBS), nephritis (NPHP), and hepatocyte nuclear factor 1-beta (HNF1-β) nephropathy. Some RCDs presenting in neonates are not hereditary but sporadically heritable, including multicystic dysplastic kidney (MCDK), calyx diverticulum (CD), and simple and complex renal cysts. In addition, renal dysplasia has been associated with several genetic syndromes such as Merkel-Gruber syndrome (MKS), chromosomal abnormalities such as trisomy 18, vertebral defects-anal atresia-heart defects-tracheoesophageal fistula-renal anomalies-anomalies of the limbs (VACTERL), renal-hepatic-pancreatic dysplasia (RHPD), and splenic disorders.

There is a core curriculum that emphasizes issues surrounding diagnosis and management, including perinatal care and prenatal counseling for MCDK, cystic dysplasia, HNF1-beta nephropathy, Zellweger spectrum disorders, CD, ARPKD, ADPKD, pediatric NPHP, BBS, and MKS.

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Renal Development and Prenatal Evaluation of Renal Cystic Diseases

The formation of the urinary system begins in the third week of pregnancy, during the cervical surrogate, which leads to the development of the middle kidney. The mesonephric ducts form the collection system for the ureter and renal pelvis, making urine by 16 weeks. At 9 weeks of gestation, the fetal bladder is visible on ultrasound and at 11-12 weeks the fetal kidneys (hyperechoic oval structures) can be identified. In contrast to the liver and spleen, the echogenicity of the kidneys decreases throughout gestation, presenting a typical corticomedullary differentiation at birth. Unless affected by fetal kidney anomalies, the kidneys will continue to grow normally with age.

Renal malformations may vary in appearance and severity and may vary depending on the number of nephrons present, missing, or duplicated; whether they are in a normal location or in the pelvis; whether they are small or large, and whether they are hypoechoic or hyperechoic. These abnormalities may be evident at the initial examination or may evolve during pregnancy. Prenatal ultrasound scans are an effective tool for detecting fatal and severe renal malformations. The ultrasound scan should describe the size, location, and echogenicity of the kidneys. Renal ultrasound scans are usually evaluated in 2 planes, sagittal (to assess growth) and transverse (to assess the renal pelvis), and are located between the umbilical artery and vein. In addition, bladder imaging should be performed starting at 13 weeks, requiring the patient to have an intact bladder for visualization (bladder fills every 30 minutes).

The cystic disease is one of the most common renal malformations. It is useful to use the number and size of cysts to determine the extent of renal involvement while describing the normal areas of both kidneys that are not involved. A dilated renal pelvis is a common finding and may develop into hydronephrosis. The grade of hydronephrosis is based on severity, and grade IV is similar to MCDK. In the presence of bladder outlet obstruction, amniocentesis may be useful in assessing fetal renal function. Fetal magnetic resonance imaging (MRI) should be considered in certain cases of echogenicity of the kidneys.

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Genetic Testing and Prenatal Counseling

When renal abnormalities are identified on prenatal ultrasound, prenatal counseling should be provided to the neonatologist, maternal-fetal medicine specialist, and geneticist. The counseling should include ultrasound findings, family history, and any information regarding prognosis and the likelihood of recurrence, followed by a pregnancy management plan. The patient should also be offered options for prenatal and postnatal genetic testing. Such testing will vary based on family history and renal findings and may use both non-targeted and targeted next-generation sequencing (NGS) approaches to sequence multiple genes for further diagnostic evaluation. An improved understanding of the genetics of kidney disease is expected to increase the clinical utility of genetic analysis and provide valuable information regarding clinical management, prognosis, and risk of recurrence.

Current genetic testing recommendations, endorsed by multiple renal, pediatric, and obstetric societies Bilateral fetal kidney involvement with significant oligohydramnios is frequently associated with Porter's disease and fetal lung dysplasia. In cases of hyperhidrosis and severe pulmonary hypoplasia, postpartum survival may not be possible and therefore the pregnancy may be terminated before fetal survival with appropriate counseling. In less severe cases, close and regular monitoring of the fetal kidneys, ureters, bladder, and fetal growth throughout pregnancy is necessary. Parental counseling is critical and should include extensive evaluation and management, including dialysis, of the child who may require critical care at birth. Whenever ADPKD or ARPKD, or both, is suspected, appropriate testing, including genetic testing, should be completed to counsel parents regarding prognosis, any associated extrarenal organ involvement, and risk of recurrence in subsequent pregnancies.

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Recent clinical and basic science discoveries have helped to identify the pathogenesis of hereditary and sporadic RCD occurring in neonates, thus greatly improving our ability to diagnose and treat them. Modern neonatal intensive care and renal replacement therapy modalities have improved prognosis in terms of survival and quality of life. In addition, families now have the option of using genetic testing to improve outcomes and exploring preimplantation genetic diagnosis for early diagnosis in affected families. RCD routine monitoring and proactive management can improve the quality of life for patients. It can also be improved with the use of tuberous Cistanche supplements for conditioning. Therapeutic measures are currently being explored in the infant population, and future treatments may utilize multiple agents and modalities that target specific pathways at different stages of renal disease.

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REFERENCES

2. Kwatra S, Krishnappa V, Mhanna C, et al.Cystic diseases of childhood: a review.Urology. 2017;110:184-191.

3. Gimpel C, Avni FE, Bergmann C, et al. Perinatal diagnosis, management, and follow-up of cystic renal diseases a clinical practice recommendation with systematic literature reviews.JAMA Pediatr.2018;172(1):74-86.

4. Gimpel C, Avni FE, Bergmann C, et al. Perinatal diagnosis, management, and follow-up of cystic renal diseases a clinical practice recommendation with systematic literature reviews. JAMA Pediatr. 2018;172(1):74-86.

5. Bergmann C. ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies. Pediatr Nephrol. 2015;30(1):15-30.