BACKGROUND: Dominant polycystic kidney disease is common and usually presents clinically in adulthood. Recessive polycystic kidney disease is much less common and frequently presents antenatally or in the neonatal period with severe renal involvement. These are usually thought of as clinically distinct entities but diagnostic confusion is not infrequent. CASE-DIAGNOSIS/TREATMENT: We describe an infant with antenatally diagnosed massive renal enlargement and oligohydramnios with no resolvable cysts on ultrasound scanning. He underwent bilateral nephrectomy because of respiratory compromise and poor renal function but died subsequently of overwhelming sepsis. Genetic analysis revealed that he had bilineal inheritance of abnormalities of PKD1 and no demonstrable abnormalities of PKD2 or PKHD1. CONCLUSIONS: Biallelic inheritance of abnormalities of PKD1 may causextremely severe disease resembling autosomal recessive polycystic kidney disease (ARPKD) which can result indiagnostic confusion. Accurate diagnosis is essential forgenetic counseling [corrected].
BACKGROUND:Dominant polycystic kidney disease is common and usually presents clinically in adulthood. Recessive polycystic kidney disease is much less common and frequently presents antenatally or in the neonatal period with severe renal involvement. These are usually thought of as clinically distinct entities but diagnostic confusion is not infrequent. CASE-DIAGNOSIS/TREATMENT: We describe an infant with antenatally diagnosed massive renal enlargement and oligohydramnios with no resolvable cysts on ultrasound scanning. He underwent bilateral nephrectomy because of respiratory compromise and poor renal function but died subsequently of overwhelming sepsis. Genetic analysis revealed that he had bilineal inheritance of abnormalities of PKD1 and no demonstrable abnormalities of PKD2 or PKHD1. CONCLUSIONS: Biallelic inheritance of abnormalities of PKD1 may causextremely severe disease resembling autosomal recessive polycystic kidney disease (ARPKD) which can result indiagnostic confusion. Accurate diagnosis is essential forgenetic counseling [corrected].
Authors: Carsten Bergmann; Jennifer von Bothmer; Nadina Ortiz Brüchle; Andreas Venghaus; Valeska Frank; Henry Fehrenbach; Tobias Hampel; Lars Pape; Annegret Buske; Jon Jonsson; Nanette Sarioglu; Antónia Santos; Jose Carlos Ferreira; Jan U Becker; Reinhold Cremer; Julia Hoefele; Marcus R Benz; Lutz T Weber; Reinhard Buettner; Klaus Zerres Journal: J Am Soc Nephrol Date: 2011-10-27 Impact factor: 10.121
Authors: Carsten Bergmann; Jan Senderek; Ellen Windelen; Fabian Küpper; Iris Middeldorf; Frank Schneider; Christian Dornia; Sabine Rudnik-Schöneborn; Martin Konrad; Claus P Schmitt; Tomas Seeman; Thomas J Neuhaus; Udo Vester; Jutta Kirfel; Reinhard Büttner; Klaus Zerres Journal: Kidney Int Date: 2005-03 Impact factor: 10.612
Authors: L M Guay-Woodford; G Muecher; S D Hopkins; E D Avner; G G Germino; A P Guillot; J Herrin; R Holleman; D A Irons; W Primack Journal: Am J Hum Genet Date: 1995-05 Impact factor: 11.025
Authors: L M Guay-Woodford; C A Galliani; E Musulman-Mroczek; G S Spear; A P Guillot; J Bernstein Journal: Pediatr Nephrol Date: 1998-04 Impact factor: 3.714
Authors: Thomas Naert; Özgün Çiçek; Paulina Ogar; Max Bürgi; Nikko-Ideen Shaidani; Michael M Kaminski; Yuxiao Xu; Kelli Grand; Marko Vujanovic; Daniel Prata; Friedhelm Hildebrandt; Thomas Brox; Olaf Ronneberger; Fabian F Voigt; Fritjof Helmchen; Johannes Loffing; Marko E Horb; Helen Rankin Willsey; Soeren S Lienkamp Journal: Development Date: 2021-11-05 Impact factor: 6.868