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

Sheu, Ji-Nan; Chen, Chiung-Hui; Tsau, Yong-Kwei; Wu, Trang-Tiau; Chien, Chao-Tong; Shy, Shya-Wen

doi:10.1159/000168313

Cited by 10 publications

(3 citation statements)

References 8 publications

(25 reference statements)

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“…In the case reported here, renal hyperechogenicity and progressive renal enlargement were documented for the 21-34 weeks scanning period, and these findings are compatible with previously reported cases of ADPKD presenting in titero. However, no regression of fetal renal cysts or normalisation of renal echogenicity has been reported in cases of fetal/neonatal ADPKD (10)(11)(12). Oligohydramnios developed only in approximately a third of these cases and enlarged kidneys, as in this patient, were often compatible with fetal survival.…”

Section: Discussionmentioning

confidence: 62%

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Apparent normalisation of fetal renal size in autosomal dominant polycystic kidney disease (PKD1)

Jeffery¹,

Saggar-Malik

Economides

et al. 1998

Clinical Genetics

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We present a family with adult onset autosomal dominant polycystic kidney disease (ADPKD) in two generations, linked to the PKD1 locus and with paternal transmission to the fetus. The fetus carried the PKD1 haplotype and was, therefore a gene carrier. Progressive hyperechogenic renal enlargement, but no cysts, was documented by serial fetal ultrasounds at 21, 23 and 34 weeks of gestation. Surprisingly, the newborn renal scan showed normal sized kidneys with apparently normal corticomedullary differentiation. However, at 11 months of age, the evolution of cysts in one kidney, and then in the other kidney at 20 months, was documented by ultrasound in the absence of clinical symptoms or signs. The observed normalisation of fetal renal ultrasound appearances at birth has not previously been described in fetuses presenting with PKD1.

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Section: Discussionmentioning

confidence: 62%

“…Oligohydramnios developed only in approximately a third of these cases and enlarged kidneys, as in this patient, were often compatible with fetal survival. After birth a gradual increase in the number and size of renal cysts was observed, and this included children with proven PKDl (4, 11,13).…”

Section: Discussionmentioning

confidence: 99%

Apparent normalisation of fetal renal size in autosomal dominant polycystic kidney disease (PKD1)

Jeffery¹,

Saggar-Malik

Economides

et al. 1998

Clinical Genetics

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“…Imaging studies usually show marked renal enlargement and either diffuse or partial replacement of the entire kidney with cysts [1][2][3][4]. Unilateral cystic change of the kidney has been reported in children as an unusual presenting manifestation of ADPKD [5][6][7][8][9][10][11][12][13][14][15] and has recently been reported to occur in autosomal recessive polycystic kidney disease [16]. The distribution of renal cysts in ADPKD has been found to be asymmetric, particularly in children [5].…”

Section: Discussionmentioning

confidence: 99%

Unilateral renal cystic disease in an adult

1994

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Unilateral renal cystic disease (URCD) is a rare, nonfamilial, nonprogressive, unilateral cystic disorder of the kidney. Very few adults with this condition have been documented [1-4]. We describe a case with a 30 year radiologic follow-up. Absence of a family history of cystic renal disease, benign clinical course through adulthood, and limitation of the process to one kidney distinguish this condition from asymmetric autosomal dominant polycystic kidney disease (ADPKD).

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Hyperechoic kidneys in the newborn and young infant

1993

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Increased echogenicity of the kidney in the newborn has many causes, some of which reflect serious renal disease. The major abnormal imaging pattern is the large, diffusely hyperechoic kidney with abnormal architecture. Its differential diagnosis includes recessive and dominant polycystic kidney disease (PKD), glomerulocystic kidney disease, and diffuse cystic dysplasia. The family history and ultrasonic screening of the parents and siblings are essential in the evaluation. The identification of associated nonrenal abnormalities is important to the recognition of syndromal cystic disease. Glomerulocystic kidney disease, which comprises sporadic and syndromal forms, appears similar to dominant PKD. While renal biopsy almost always differentiates recessive from dominant PKD, renal biopsy cannot differentiate among the forms of glomerulocystic kidney disease, except in the case of tuberous sclerosis, which has unique histopathological characteristics. Other causes of the enlarged hyperechoic kidneys with abnormal architecture include renal vein thrombosis and congenital nephrotic syndrome. A second pattern is the hyperechoic small kidney with abnormal architecture. Many of these kidneys are dysplastic and associated with urinary tract obstruction. The combination of hyperechoic parenchyma and pyelocaliceal dilatation suggests obstructive cystic dysplasia. Cortical and medullary necrosis in the newborn also causes hyperechogenicity in small kidneys. A third pattern contains those kidneys with medullary hyperechogenicity, the most common cause of which in the newborn is nephrocalcinosis associated with furosemide therapy.(ABSTRACT TRUNCATED AT 250 WORDS)

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

Cited by 10 publications

References 8 publications

Apparent normalisation of fetal renal size in autosomal dominant polycystic kidney disease (PKD1)

Apparent normalisation of fetal renal size in autosomal dominant polycystic kidney disease (PKD1)

Unilateral renal cystic disease in an adult

Hyperechoic kidneys in the newborn and young infant

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