Prenatal diagnosis of genetic renal diseases: breaking the code

Prenatal MRI Findings of Polycystic Kidney Disease Associated with Holoprosencephaly

“…The clinical situation is variable, depending on the degree of renal and hepatic involvement (11), and has an estimated prevalence of 1:20,000 live births (10). The disease is most commonly observed during the perinatal period and usually produces renal failure in utero or at birth, and eventual death from pulmonary hypoplasia secondary to the oligohydramnios (11, 12). HPE and PKD are genetically heterogeneous anomalies and can make up part of different syndromes or chromosomal anomalies (8, 13).…”

Autosomal recessive polycystic kidney disease diagnosed in fetus

“…[4] The characteristic findings in ultrasound are enlarged, homogenously hyperechogenic kidneys with the absence of corticomedullary differentiation and difficulty in identifying fetal bladder. [5] The liver is usually normal in echogenicity. The increased echogenicity in the kidneys is due to the return of the sound waves from the enormous number of interfaces created by tightly compacted collecting ducts.…”

Autosomal Recessive Polycystic Kidney Disease—The Clinical Aspects and Diagnostic Challenges

“…Renal cysts may be detected prenatally also in some metabolic disorders: Smith-Lemli-Opitz's syndrome, peroxisome biogenesis disorders, glutaric aciduria type 2, and neonatal form of carnitine palmitoyltransferase II deficiency. 43 In 2017, pathogenic variants in the PMM2 gene (phosphomannomutase 2) resulting in an ARPKD and hyperinsulinism were described in 11 families. 44 The differential diagnosis of PKD in adolescent or adult patients should also take into account for MUC1 and UMODrelated autosomal dominant tubulointerstitial kidney diseases.…”