Unusual sonographic features of ARPKD

Abstract

The classic sonographic appearance of the kidneys in fetuses with autosomal recessive polycystic kidney disease (ARPKD) has been well described. We report a case of enlarged kidneys with pyramidal hyperechogenicity quite similar to medullary nephrocalcinosis found in a fetus at 34 weeks' gestation. At 39 weeks, a female neonate was delivered and died after 22 h due to pulmonary insufficiency secondary to severe oligohydramnios. On pathological analysis, the gross and microscopic findings were typical of ARPKD with diffuse dilatation of tubules throughout. The fetal renal lobulation was prominent and on section, the pyramids were delineated within each lobule, accounting for the clear image of the pyramids observed on sonography.

Prenatal MRI Findings of Polycystic Kidney Disease Associated with Holoprosencephaly

“…Autosomal recessive PKD, previously termed infantile polycystic kidney disease, is an inherited disorder characterized by bilateral symmetrical enlargement of the kidneys and cystic dilation of the renal tubules, often with hepatic fibrosis. 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).…”

“…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).…”

An unusual case of renal medullary hyperechogenicity and hypertension: answer

“…Reviewing the literature, we found the description of this unusual radiologic pattern in two patients with ARPKD [10,11]. Both cases concerned premature newborns, with serious manifestations of the disease that ultimately led to death in the first days of life with respiratory insufficiency.…”

“…Renal function is normal, and the only relevant complication is arterial hypertension, which is the most common condition associated with this disease [5]. According to the Blyth and Oeckenden classification [8], this benign clinical evolution, beyond the first year of age, would not be expected in such an early presentation of ARPKD, and it demonstrates that there is a wide clinical spectrum of ARPKD [6,9,11].…”

“…Both cases concerned premature newborns, with serious manifestations of the disease that ultimately led to death in the first days of life with respiratory insufficiency. Okumura et al [11], after postmortem pathological analysis, correlated the strong echogenicity with the prominent lobulation of the fetal kidneys, with the pyramids ectatic and densely packed within each lobule. In the patient described here there was oligohydramnios but no pulmonary hypoplasia.…”