Unilateral abdominal mass: an unusual presentation of autosomal dominant polycystic kidney disease in children

Farrell, Timothy P.; Boal, Danielle K.; Wood, Beverly P.; Dagen, J. Edward; Rabinowitz, Ronald

doi:10.1007/bf01601893

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Pediatr Radiol

1984

DOI: 10.1007/bf01601893

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Unilateral abdominal mass: an unusual presentation of autosomal dominant polycystic kidney disease in children

Timothy P. Farrell

Danielle K. Boal

Beverly P. Wood

et al.

Abstract: Autosomal dominant polycystic kidney disease is rarely diagnosed in infancy or childhood. The renal involvement is typically bilateral. We describe two children with ADPKD (autosomal dominant polycystic kidney disease) presenting with a unilateral renal mass. The value of a careful genetic history and the role of sonography will be discussed.

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Cited by 11 publications

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References 14 publications

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“…The mechanism of early manifestation is still unclear and different theories have been suggested.89 Affected sibs have either been described as single case reports or as a part of a more general analysis of ADPKD (table 1).2458 [10][11][12][13][14][15][16][17][18][19][20][21][22] Although a higher than expected recurrence risk of early onset ADPKD has been postulated before,5 17 no larger study exists concentrating on the intrafamilial variability and the risk to sibs for early manifestation of ADPKD.…”

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confidence: 99%

Childhood onset autosomal dominant polycystic kidney disease in sibs: clinical picture and recurrence risk. German Working Group on Paediatric Nephrology (Arbeitsgemeinschaft fur Padiatrische Nephrologie.

Zerres¹,

Rudnik‐Schöneborn²,

Deget³

1993

Journal of Medical Genetics

105

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In a systematic study on In order to estimate the recurrence risk to sibs of a previously diagnosed patient with early manifesting ADPKD, we found that 15 out of a total of 65 sibs of the 64 index patients (45% of the theoretically expected 32 5 gene carriers) showed comparable early manifestation. Another 10 symptom free children were diagnosed sonographically as having ADPKD before the age of 18 years, so that the total number of affected sibs was 25/65 in the study group, representing 76% of the gene carriers. Although the gene in childhood manifesting ADPKD can be transmitted through both sexes, a statistically significant (p < 0 05) maternal predominance was observed (M:F = 23:41). In affected sibs ages of onset, initial presentation, and the development of complications appeared to be similar in the majority of families.Our data indicate a high recurrence risk to sibs for early manifestation of ADPKD which has important implications for genetic counselling and clinical care of affected families and gives clues to the underlying genetic mechanism of childhood onset ADPKD.

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mentioning

confidence: 99%

Childhood onset autosomal dominant polycystic kidney disease in sibs: clinical picture and recurrence risk. German Working Group on Paediatric Nephrology (Arbeitsgemeinschaft fur Padiatrische Nephrologie.

Zerres¹,

Rudnik‐Schöneborn²,

Deget³

1993

Journal of Medical Genetics

105

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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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Unilateral abdominal mass: an unusual presentation of autosomal dominant polycystic kidney disease in children

Cited by 11 publications

References 14 publications

Childhood onset autosomal dominant polycystic kidney disease in sibs: clinical picture and recurrence risk. German Working Group on Paediatric Nephrology (Arbeitsgemeinschaft fur Padiatrische Nephrologie.

Childhood onset autosomal dominant polycystic kidney disease in sibs: clinical picture and recurrence risk. German Working Group on Paediatric Nephrology (Arbeitsgemeinschaft fur Padiatrische Nephrologie.

Unilateral renal cystic disease in an adult

Hyperechoic kidneys in the newborn and young infant

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