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2020

ANUÁRIO DO HOSPITAL
DONA ESTEFÂNIA

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AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY DISEASE (ADPKD): 9 YEARS’ EXPERIENCE OF A PORTUGUESE PEDIATRIC NEPHROLOGY UNIT

J. Simões1, D. Rodrigues1, C. Borges1, M. Cruz2, R. Baptista1, T. Francisco1, R. Santos1, A.P. Serrao1, G. Neto1, M. Abranches1

1 - Pediatric Nephrology Unit, Paediatrics Department, Centro Hospitalar Universitário de Lisboa Central, Portugal
2 - Genetics Department, Centro Hospitalar Universitário de Lisboa Central, Portugal

- 8th Congress of the International Pediatric Nephrology Association, Venice (Italy), October 2019 (Poster).
- Abstract published in: Pediatr Nephrol (2019) 34:2195

Introduction: Autosomal-dominant polycystic kidney disease (ADPKD) affects 12.5 million people worldwide. Clinical presentation and severity are very heterogeneous, with 10-15% of cases with no identified mutations. Progression to chronic kidney disease (CKD) is a reality and this group accounts for 5-10% of adults under kidney replacement therapy. Studies characterizing phenotypic variability intend to achieve a more prompt diagnosis, improve prognostic evaluation and define a better follow-up plan.
Materials and Methods: Descriptive retrospective study between 2009 and 2018.
Results: We followed 49 patients with ADPKD, 29 (58%) boys and 21 (42%) girls. Eight (16%) had no family history of PKD and 32 (65%) had 2 or more relatives affected, mostly parents and grandparents. Four (8%) had prenatal diagnosis. Twenty-six (53%) showed kidney injury markers: 13 (27%) hypertension, 8 (16%) albuminuria and 11 (22%) reduced glomerular filtration rate (GFR) classifying to stage 2 CKD; of these, 7 (27%) were obese or overweight. Overweight/obesity was an independent predictor of hypertension in a logistic regression model adjusted for age, sex, and size of the cysts (p=0.12). Seven (14%) had extra-renal involvement – 5 (10%) had liver enlargement, 1 (2%) liver cysts and 1 (2%) liver and pancreatic cysts. Twenty-four (49%) had PKD1 mutations, 3 (6%) PKD2 mutations, 1 (2%) both PDK1 and PKD2mutations, 3 (6%) no mutations and 2 (4%) Contiguous Gene Syndrome (CGS) with Tuberous Sclerosis Complex (TSC). In 36 patients where it was possible to determine the kidney diameter, 15 (42%) had enlarged kidneys.
Conclusions: Controversy exists regarding screening and follow-up in relatives of patients during pediatric age. More than half of our ADPKD patients showed kidney injury markers, and more than one fifth of these were obese or overweight, important comorbidities that may negatively affect renal outcome. These results reinforce the need to identify and monitor these patients up closely.

Keywords: albuminúria, hypertension, polycystic kidney disease