Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is a dominantly inherited genetic disorder. The affected parent has a 50% chance of transmitting the mutated gene to his or her offspring. The aim of this study was to evaluate the epidemioclinic, evolutionary and prognostic profile of ADPKD cases in the nephrology department of the Point G University Hospital. Materials and Methods: We conducted a descriptive study with retrospective data collection on 36 medical records of ultrasound-confirmed polycystic kidney disease in the Nephrology Department at Point G University Hospital during the period from January 1, 2018 to December 31, 2021. Results: The overall prevalence of ADPKD in the study was 1.08%, with an annual incidence of 09 cases. The mean age of patients was 49.14 ± 13.842 years, with extremes of 16 and 82 years. The 41 - 59 age group accounted for 56% of cases. The circumstances of discovery were, in order of frequency, lumbar pain and/or heaviness (39%), renal failure (36%), ultrasound (22%) and macroscopic hematuria (3). Chronic renal failure was the main complication (83% of cases). Progression was favourable in the majority of cases (75% of patients). Conclusion: ADPKD is probably underdiagnosed in black Africa. It is often discovered late in life, when renal function is already impaired. Earlier family screening combined with nephroprotective measures will improve patient prognosis.
References
[1]
Noël, N. and Rieu, P. (2015) Pathophysiologie, épidémiologie, présentation clinique, diagnostic et options thérapeutiques dans la polykystose rénale autosomique dominante. Néphrologie & Thérapeutique, 11, 213-225. https://doi.org/10.1016/j.nephro.2015.04.001
[2]
Levy, M. and Feingold, J. (2000) Estimating Prevalence in Single-Gene Kidney Diseases Progressing to Renal Failure. Kidney International, 58, 925-943. https://doi.org/10.1046/j.1523-1755.2000.00250.x
[3]
Dicks, E., Ravani, P., Langman, D., Davidson, W.S., Pei, Y. and Parfrey, P.S. (2006) Incident Renal Events and Risk Factors in Autosomal Dominant Polycystic Kidney Disease: A Population and Family-Based Cohort Followed for 22 Years. Clinical Journal of the American Society of Nephrology, 1, 710-717. https://doi.org/10.2215/cjn.01581105
[4]
Ivy, D.D., Shaffer, E.M., Johnson, A.M., Kimberling, W.J., Dobin, A. and Gabow, P.A. (1995) Cardiovascular Abnormalities in Children with Autosomal Dominant Polycystic Kidney Disease. Journal of the American Society of Nephrology, 5, 2032-2036. https://doi.org/10.1681/asn.v5122032
[5]
Fick-Brosnahan, G.M., Belz, M.M., McFann, K.K., Johnson, A.M. and Schrier, R.W. (2002) Relationship between Renal Volume Growth and Renal Function in Autosomal Dominant Polycystic Kidney Disease: A Longitudinal Study. American Journal of Kidney Diseases, 39, 1127-1134. https://doi.org/10.1053/ajkd.2002.33379
[6]
Torres, V.E., King, B.F., Chapman, A.B., Brummer, M.E., Bae, K.T., Glockner, J.F., et al. (2007) Magnetic Resonance Measurements of Renal Blood Flow and Disease Progression in Autosomal Dominant Polycystic Kidney Disease. Clinical Journal of the American Society of Nephrology, 2, 112-120. https://doi.org/10.2215/cjn.00910306
[7]
Pirson, Y. and Kanaan, N. (2015) Infectious Complications in Autosomal Dominant Polycystic Kidney Disease. Néphrologie & Thérapeutique, 11, 73-77.
[8]
Macron-Noguès, F., Vernay, M., Ekong, E., Thiard, B., Salanave, B., Fender, P., et al. (2005) The Prevalence of ESRD Treated with Renal Dialysis in France in 2003. American Journal of Kidney Diseases, 46, 309-315. https://doi.org/10.1053/j.ajkd.2005.04.017
[9]
Mohamed, M.O. (2006) Polykystose rénale autosomique dominante (PKAD): Aspects épidémiologiques, cliniques, biologiques, et pronostiques à propos de 54 cas colligés d 1995 à 2005. Thèse méd, Nº 34.
[10]
Fadimata, A. (2008) Contribution à l’étude de la polykystose rénale au service de néphrologie et d’hémodialyse du CHU du POINT G à propos de 32 cas. Thèse Med., Bamako, Nº 8-M76.
[11]
Abdrahamane, D. (2014) Apport de l’imagerie médicale dans le diagnostic de la polykystose rénale dans le service de radiologie et médecine nucléaire du CHU du point G. Thèse med, Bamako, Nº 50.
[12]
KDIGO (Kidney Disease: Improving Global Outcomes) Acute Kidney Injury Work Group (2012) KDIGO Clinical Practice Guideline for Acute Kidney Injury. Kidney International Supplements, 2, 1-138.
[13]
Moulin, B. and Peraldi, M.N. (2016) Néphrologie. 7ième édition, Ellipses.
[14]
Ravine, D., Sheffield, L., Danks, D.M., Gibson, R.N., Walker, R.G. and Kincaid-Smith, P. (1994) Evaluation of Ultrasonographic Diagnostic Criteria for Autosomal Dominant Polycystic Kidney Disease. The Lancet, 343, 824-827. https://doi.org/10.1016/s0140-6736(94)92026-5
[15]
Thervet, E. (2017) Traité de Néphrologie. Lavoisier.
[16]
Neumann, H.P.H., Jilg, C., Bacher, J., Nabulsi, Z., Malinoc, A., Hummel, B., et al. (2013) Epidemiology of Autosomal-Dominant Polycystic Kidney Disease: An In-Depth Clinical Study for South-Western Germany. Nephrology Dialysis Transplantation, 28, 1472-1487. https://doi.org/10.1093/ndt/gfs551
[17]
Garcia Iglesias, C., Torres, V.E., Offord, K.P., Holley, K.E., Beard, C.M. and Kurland, L.T. (1983) Epidemiology of Adult Polycystic Kidney Disease, Olmsted County, Minnesota: 1935-1980. American Journal of Kidney Diseases, 2, 630-639. https://doi.org/10.1016/s0272-6386(83)80044-4
[18]
Sallee, M., Rafat, C., Zahar, J.R., Paulmier, B., Grunfeld, J.P., Knebelmann, B., et al. (2009) Cyst Infections in Patients with Autosomal Dominant Polycystic Kidney Disease. Clinical Journal of the American Society of Nephrology, 4, 1183-1189. https://doi.org/10.2215/cjn.01870309
[19]
Ndongo, M. (2019) Polykystose renale autosomique dominante: Aspects epidemiologiques, cliniques, et paracliniques et evolutifs dans le service de nephrologie de l’hopital aristide le dantec de dakar. These Mede, Universite cheickh anta diop de Dakar.
[20]
Chapman, A.B., Johnson, A., Gabow, P.A. and Schrier, R.W. (1990) The Renin-Angiotensin-Aldosterone System and Autosomal Dominant Polycystic Kidney Disease. New England Journal of Medicine, 323, 1091-1096. https://doi.org/10.1056/nejm199010183231602
[21]
Grantham, J.J., Torres, V.E., Chapman, A.B., Guay-Woodford, L.M., Bae, K.T., King, B.F., et al. (2006) Volume Progression in Polycystic Kidney Disease. New England Journal of Medicine, 354, 2122-2130. https://doi.org/10.1056/nejmoa054341
[22]
Schrier, R.W., Brosnahan, G., Cadnapaphornchai, M.A., Chonchol, M., Friend, K., Gitomer, B., et al. (2014) Predictors of Autosomal Dominant Polycystic Kidney Disease Progression. Journal of the American Society of Nephrology, 25, 2399-2418. https://doi.org/10.1681/asn.2013111184
[23]
Hateboer, N., v Dijk, M.A., Bogdanova, N., Coto, E., Saggar-Malik, A.K., Millan, J.L.S., et al. (1999) Comparison of Phenotypes of Polycystic Kidney Disease Types 1 and 2. The Lancet, 353, 103-107. https://doi.org/10.1016/s0140-6736(98)03495-3
[24]
Simon, P., et al. (1996) Données épidémiologiques, cliniques et pronostiques de la maladie polykystique autosomique dominante dans une région française. Néphrologie, 17, 123-130.
[25]
Milutinovic, J. and Agodoa, L.Y. (1983) Potential Causes and Pathogenesis in Autosomal Dominant Polycystic Kidney Disease. Nephron, 33, 139-144. https://doi.org/10.1159/000182928
[26]
Gevers, T.J.G. and Drenth, J.P.H. (2013) Diagnosis and Management of Polycystic Liver Disease. Nature Reviews Gastroenterology & Hepatology, 10, 101-108. https://doi.org/10.1038/nrgastro.2012.254
[27]
Tillou, X., Timsit, M.-., Sallusto, F., Culty, T., Verhoest, G., Doerfler, A., et al. (2016) Prise en charge de la polykystose rénale autosomique dominante avant transplantation rénale. ProgrèsenUrologie, 26, 993-1000. https://doi.org/10.1016/j.purol.2016.08.010
[28]
Kanaan, N., Devuyst, O. and Pirson, Y. (2014) Renal Transplantation in Autosomal Dominant Polycystic Kidney Disease. Nature Reviews Nephrology, 10, 455-465. https://doi.org/10.1038/nrneph.2014.104