Papillary renal cell carcinoma in two young adults with glycogen storage disease type Ia
Ariane Perry,
Claire Douillard,
Frederic Jonca,
Francois Glowacki,
Xavier Leroy,
Paul Caveriviere,
Aurélie Hubert,
Philippe Labrune
Affiliations
Ariane Perry
APHP, Hôpitaux Universitaires Paris Sud, Hôpital Antoine Béclère, Centre de référence des maladies héréditaires du métabolisme hépatique Clamart France
Claire Douillard
Lille University Hospital, Hôpital Jeanne de Flandres, Centre de référence des maladies héréditaires du métabolisme Lille France
Frederic Jonca
Clinique Ambroise Paré Toulouse France
Francois Glowacki
Nephrology Department Huriez Hospital, Lille University Hospital Lille France
Xavier Leroy
Department of Pathology Univ. Lille, CHU Lille France
Paul Caveriviere
Anatomy and pathology laboratory, les Feuillants Toulouse France
Aurélie Hubert
APHP, Hôpitaux Universitaires Paris Sud, Hôpital Antoine Béclère, Centre de référence des maladies héréditaires du métabolisme hépatique Clamart France
Philippe Labrune
APHP, Hôpitaux Universitaires Paris Sud, Hôpital Antoine Béclère, Centre de référence des maladies héréditaires du métabolisme hépatique Clamart France
Abstract Glycogen storage disease type Ia (GSD Ia) is a rare metabolic disease due to glucose‐6‐phosphatase deficiency. Chronic kidney disease is a frequent complication that may manifest itself by glomerular lesions and tubular dysfunction from the second decade of life. We report two young GSDIa patients with malignant renal tumor. The first patient was a 25‐year‐old man. He had chronic metabolic imbalance without kidney involvement. The tumor, a type 2 papillary renal carcinoma, was accidentally discovered during follow‐up. The second patient was a 27‐year‐old woman with chronic metabolic imbalance and chronic kidney involvement. The tumor, a grade 2 papillary carcinoma, was accidentally discovered during follow‐up. These two observations are, to date, the first to be reported. We suggest that annual monitoring of kidney imaging in GSDI patients should be systematic to detect renal cancer, from the second decade of life.
