Radiologic features of “adult type” polycystic kidney disease in the neonate

Abstract

Two cases are reported of adult type polycystic renal disease (autosomal dominant) presenting in the newborn as a unilateral abdominal mass. The radiographic findings in the involved kidney simulated the ectatic tubules of infantile polycystic disease, yet histologic examination was consistent with the adult variety and both infants had other family members with adult type polycystic kidneys. These cases emphasize some of the ambiguities that exist in the definition and classification of polycystic renal disease.

Autosomal Dominant Polycystic Kidney Disease: An Unusual Presentation as Unilateral Renal Mass in the Infant

“…So we do not know whether the parents or other family members have silent symptoms or not. Initial hypertension did not present in any case, but developed later in 2 cases [1,2]. Hematuria was found in 9 cases.…”

“…Although renal involvement is typically bilateral in autosomal dominant PKD, the presentation with a uni lateral renal mass on initial evaluation has been reported in 17 cases aged from 1 day to 9 years (table 1) [1][2][3][4][5][6][7][8][9], Of these 17 reported cases, histological confirmation was available in 10 cases [1,2,[4][5][6][7][8][9]; radiologic study with positive family history for autosomal dominant PKD was available in 7 cases [3,6], Children diagnosed as having autosomal dominant PKD led to the discovery of this disease in a parent or family member in 8 cases [1][2][3][6][7][8]. Screening study of family members showed that none had had renal disease except 1 case [1].…”

“…Our case showed no hematuria, hypertension or abnor mal renal function. Bilateral involvement was finally confirmed by radiography in 4 cases [ 1,3,8,9] and by renal histology in 3 cases [2,4,5]. Unilateral nephrec tomy was performed in 5 cases before the correct diagno sis of autosomal dominant PKD was made [1,2.6, 7], Of those 17 cases, 2 died and 14 were still alive at the time of the case report.…”

“…The appearance of clinical manifestation occurs characteris tically in adulthood, and renal involvement is univer sally bilateral. Diagnosis of autosomal dominant PKD is rare in infants and children, and such a disorder present ing with unilateral involvement is extremely rare [1][2][3][4][5][6][7][8][9]. Herein we report autosomal dominant PKD presenting with unilateral renal mass in an infant.…”

Imaging of Infantile Polycystic Kidney Disease with Some Rare Association

“…Cystic incolvement may initially appear to be unilateral and lead to the erroneous diagnosis of multicystic kidney, [13]. Full manifestation of the dominant type of polycys tic kidney disease with the kidneys almost entirely re placed by cyst is extremely rare during childhood and adolescence [14], However, in rare cases, the dominant type of polycystic kidney disease can occur in neonates.…”