Papillary renal cell carcinoma in two young adults with glycogen storage disease type Ia.

Autor: Perry A; APHP, Hôpitaux Universitaires Paris Sud, Hôpital Antoine Béclère, Centre de référence des maladies héréditaires du métabolisme hépatique Clamart France., Douillard C; Lille University Hospital, Hôpital Jeanne de Flandres, Centre de référence des maladies héréditaires du métabolisme Lille France., Jonca F; Clinique Ambroise Paré Toulouse France., Glowacki F; Nephrology Department Huriez Hospital, Lille University Hospital Lille France., Leroy X; Department of Pathology Univ. Lille, CHU Lille France., Caveriviere P; Anatomy and pathology laboratory, les Feuillants Toulouse France., Hubert A; APHP, Hôpitaux Universitaires Paris Sud, Hôpital Antoine Béclère, Centre de référence des maladies héréditaires du métabolisme hépatique Clamart France., Labrune P; APHP, Hôpitaux Universitaires Paris Sud, Hôpital Antoine Béclère, Centre de référence des maladies héréditaires du métabolisme hépatique Clamart France.; Université Paris Sud Paris Saclay and INSERM U 1195 France.
Jazyk: angličtina
Zdroj: JIMD reports [JIMD Rep] 2020 Jan 29; Vol. 52 (1), pp. 17-22. Date of Electronic Publication: 2020 Jan 29 (Print Publication: 2020).
DOI: 10.1002/jmd2.12096
Abstrakt: 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.
Competing Interests: The authors declare that they have no conflict of interest.
(© 2020 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.)
Databáze: MEDLINE
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