Publication: Boy with autosomal recessive polycystic kidney and autosomal dominant polycystic liver disease
Boy with autosomal recessive polycystic kidney and autosomal dominant polycystic liver disease
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Zingg-Schenk, A., Caduff, J., Azzarello-Burri, S., Bergmann, C., Drenth, J. P. H., & Neuhaus, T. J. (2012). Boy with autosomal recessive polycystic kidney and autosomal dominant polycystic liver disease. Pediatric Nephrology, 27(7), 1197–1200. https://doi.org/10.1007/s00467-012-2137-5
Abstract
Abstract
Abstract
BACKGROUND
Autosomal recessive polycystic kidney disease (ARPKD) shows a great phenotypic variability between patients, ranging from perinatal demise to mildly affected adults. Autosomal dominant polycystic liver disease (PCLD) does not manifest in childhood.
CASE-DIAGNOSIS/TREATMENT
A boy was reported with the co-occurrence of ARPKD and PCLD. He presented at the age of 16 days with pyelonephritis and urosepsis. Subsequent investigations showed enlarged kidneys and hyperechogenic renal medulla and liver parenchyma. Genetic analysis
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Creators (Authors)
- Zingg-Schenk, Andrea
- Caduff, Jürg
- Azzarello-Burri, Silvia
- Bergmann, Carsten
- Drenth, Joost P H
- Neuhaus, Thomas J
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Citations
Zingg-Schenk, A., Caduff, J., Azzarello-Burri, S., Bergmann, C., Drenth, J. P. H., & Neuhaus, T. J. (2012). Boy with autosomal recessive polycystic kidney and autosomal dominant polycystic liver disease. Pediatric Nephrology, 27(7), 1197–1200. https://doi.org/10.1007/s00467-012-2137-5
