Macrobullous Medullary Polycystic Kidney and Cystic Lung Disease

Abstract

A 20-month-old girl died in renal failure with macrobullous medullary polycystic disease of the kidney and bilateral congenital cystic disease of the lungs. Respiratory difficulty and a shifted mediastinum necessitated two pulmonary resections in infancy. The surgically resected cysts were clearly malformations consistent with cystic adenomatoid malformation and were entirely different from the cysts present at necropsy which resembled dilated normal bronchioles. The macrobullous renal cysts were confined to the medulla; however, the clinical course and the morphologic appearance of the cystic kidney were typical of neither medullary sponge kidney or medullary cystic disease. Recent evidence suggests that the differences between medullary sponge kidney, medullary cystic disease, and polycystic kidney, in some instances, may be a result of clinical selection. We concluded that the association of macrobullous medullary polycystic kidney disease and pulmonary cysts in this patient was fortuitous.

Bronchopulmonary‐foregut malformations:A continuum of paracrine hamartomas?

“…The compound lesions show overlapping clinical manifestations, despite morphologic distinctiveness of the participating hamartomas [Budorick et al, 1992;Demos and Teresi, 1975;Moerman et al, 1992;Zangwill and Stocker, 1993;Dolkart et al, 1992], while the four types have clinical and radiological/ sonographic signs and symptoms that allow diagnostic differentiation without histologic studies. Most of these malformations are solitary, nonhereditary, and with normal chromosomes; yet they have been reported with trisomies 18 and 21 [Moerman et al, 1992;Levkoff et al, 1964;Bromley et al, 1995] and with 47,XXY [Revillon et al, 1993], in monochorionic diamnionic twins [Moerman et al, 1992;Rebarber and Mohan, 1992;Harper, 1992;Sandoz, 1907;Bromley et al, 1995], with monogenic traits such as urogenital adysplasia [Moerman et al, 1992] and brachymorphismonychodysplasia-dysphalangism syndrome [Verloes et al, 1993], and with other hamartomas, Jadassohn sebaceous nevus [Sweeney et al, 1994], nephromegaly [Graham et al, 1987;Scully et al, 1985;Weinberg and Zumwalt, 1977], and renal cysts [Graham et al, 1987;Conway, 1951;Roloff et al, 1971]. In Proteus and basalcell nevus syndromes there have also been pulmonary hamartomas resembling BPFM [Cohen, 1993;Totten, 1980].…”

Sudden neonatal death from congenital cystic adenomatoid malformation

“…It is most commonly restricted to one lobe [4], but in some cases more than one lobe is involved [3,5]. Nevertheless, bilateral disease is ex-tremely uncommon [3,6]. The presence of cartilage as a component of the lesion has rarely been reported in the type II variety of the classification proposed by Stocker et al [7].…”