Multicystic dysplastic kidney

Multicystic dysplastic kidney disease (MCDK) is one of the most common renal abnormalities that can be identified during fetal ultrasound evaluation. It occurs in approximately 1 4300 live births.1Scala C. McDonnell S. Murphy F. et al.Diagnostic accuracy midtrimester antenatal for multicystic kidneys.Ultrasound Obstet Gynecol. 2017; 50: 464-469Crossref PubMed Scopus (12) Google Scholar Frequently, MCDK unilateral and isolated with overall favorable outcomes. However, when it bilaterally or other anomalies, prognosis may considerably worse.2Hsu P.Y. Yu C.H. Lin K. Cheng Y.C. Chang F.M. Prenatal diagnosis era three-dimensional ultrasound: 10-year experience.Taiwan J 2012; 51: 596-602Crossref (7) Bilateral less frequently, a reported incidence 10,000. frequently found male fetuses. kidneys are defined by echogenic parenchyma multiple noncommunicating cysts variable sizes no evidence obstructive nephropathy.2Hsu The affected often enlarged loss typical reniform shape tends to increase size over life.3Eckoldt Woderich R. Smith R.D. Heling K.S. Antenatal diagnostic aspects dysplasia—sensitivity, specificity, predictive values, differential diagnoses, associated malformations consequences.Fetal Diagn Ther. 2004; 19: 163-169Crossref (32) commonly ultrasonographic appearance cystic paraspinal mass various distributed along periphery do not communicate each other.4Winyard P. Chitty L.S. Dysplastic kidneys.Semin Fetal Neonatal Med. 2008; 13: 142-151Abstract Full Text PDF (77) When present, normal fluid-filled bladder should level amniotic fluid also normal. Absence decreased prompt an evaluation anomaly contralateral kidney, which will affect outcomes (Figure). A present 40% 50% cases.3Eckoldt normal, due compensatory hypertrophy. 70% 75% cases. Many cases include anomalies genitourinary tract, including agenesis, 15% cases.1Scala Other observed urinary tract obstruction vesicoureteral reflux; genitalia present.2Hsu Extrarenal seen 25% These cardiac, central nervous system, and, gastrointestinal anomalies; omphalocele; vertebral skeletal malformations.2Hsu presence additional raises concern possible genetic etiology. mistaken hydronephrosis calyceal involvement.3Eckoldt Obstructive dysplasia ongoing severe cause similar MCDK, but these tend develop time noted late second third trimesters pregnancy. Autosomal recessive results hyperechoic small uniform cysts, this disorder, cortex spared appear hypoechoic. syndromes characterized medulla glomeruli kidney. differ from those occur throughout dysplastic. Chromosomal 7% 14% pregnancies suspected MCDK.1Scala Scholar,5Xi Q. Zhu X. Wang Y. al.Copy number variations kidney: update prenatal counseling.Prenat Diagn. 2016; 36: 463-468Crossref (24) Scholar, 6Deshpande Hennekam R.C. Genetic prenatally detected anomalies.Semin 171-180Abstract (25) chance underlying chromosomal etiology increases extrarenal anomalies. Diagnostic testing (chorionic villus sampling amniocentesis) microarray analysis (CMA) offered detected. Xi al5Xi CMA was performed pathogenic copy variant In nonisolated specific molecular indicated depending on syndrome being considered. Although as abnormality, detailed examination identify inform further testing.6Deshpande If there consanguinity, family history condition, gene panel exome sequencing sometimes useful because does detect single-gene (Mendelian) disorders. pursued, appropriate pretest posttest counseling provider experienced complexities genomic recommended. After counseling, cell-free DNA screening option patients who decline evaluation, particularly if aneuploidy suspected. Follow-up ultrasonography recommended at 32 weeks gestation evaluate growth, volume. echocardiography considered given association Consultation pediatric nephrology urology specialists considered, Insufficient exists regarding any potential benefit testing, timing mode delivery based usual obstetrical indications. Unilateral excellent prognosis. Aslam colleagues7Aslam M. Watson A.R. Trent & Anglia Study GroupUnilateral long term outcomes.Arch Dis Child. 2006; 91: 820-823Crossref (112) cohort children diagnosed complete involution MCDKs 10 years more than affected. There hypertension, malignancy, significant proteinuria term. Surgical removal enlarging effect impacts respiration feeding neonate.8Bruyn Marks Postnatal investigation disease.Seminars Medicine. 133-141Abstract (26) contrast, bilateral impairment function result oligohydramnios anhydramnios. Early-onset anhydramnios varying degrees pulmonary hypoplasia morbidity mortality. combination both failure lethal. surveillance needed. midgestation. Prognosis dependent whether lesion bilateral, impact findings Isolated has utero postnatally. Most resolve without need surgical intervention.