Editorial
With this notice I would like to remind all of us to an important
topic such as Autosomal dominant polycystic kidney disease which
is on the fourth position between causes of the chronic renal
failure and it’s very rare in Montenegro. It is significant health
and economic burden for the community and annual expenses
for provision of services and therapy for kidney patients inside
European Union (EU) and they are estimated to 1,2 billion euros
[1]. Polycystic kidney disease (PKD) is a life-threatening genetic
disorder characterized by appearance of the numerous numbers of
cysts filled by liquid first in the kidneys and then in the other organs
such as liver and pancreas. PKD includes one of two genetical
disorders: autosomal recessive polycystic kidneys disease (ARPKD)
and autosomal dominant polycystic kidneys disease (ADPKD)
[2,3]. Autosomal dominant polycystic kidney disease (ADPKD) is
monogenic kidney disease. It is characterized by the development
of kidney cysts, hypertension and at the end kidney disease in its
final stage. It seems that the prevalence in Europe is lower than 1
in 2000 so the European agency for medications (EMA) classified it
as rare one. Beside kidney cysts, pancreas cysts are common too (to
more than older than 35) [4,5].
APKD is described for the first time 300 years ago. Population
epidemiological studies determined through autopsies influence of
ADPKD to 1 of 400 to 1000 live born or 12.5 million people around
the world. Other studies are based on the information from the
clinical register suggesting lower rates of prevalence in the range
from 1 to 543 to 1 to 4000. APDK influences both sex and it appears
in all ethnic groups. It falls on it 5% to 10 % of the cases of ESRD what
makes it the fourth leading global cause of the kidney insufficiency
[5]. ADPKD is mostly hereditary kidney disease characterized by
growing numbers of cysts in the kidneys [6]. Today around 7-8 %
of all chronic kidney patients with terminal kidney insufficiency in
Europe have PKD [7]. Although it is offered a couple of directives
about predictions of disease development the gold standard still
does not exist [8]. Beside radiological examinations and set up
of the diagnosis the most important is to take family amnesia in
details. During palpation a doctor finds out enlarge kidneys from
both sides and through functional tests sees supraphysiological
proteinuria which is not of nephrotic rank. Cysts in the liver are
present to the 50 % of the patients and they are more common to
the female patients.
The number of the patients involved in a chronic hemodialysis
program of The Clinical Centre of Montenegro in Podgorica is
around 65. From that number 35 patients are male (53,85%) and
30 patients are female (46,15 %). The primary cause of the disease
to the patients on the hemodialysis is hypertension to 26 of them
(40%) to the other 17 patients (26,15%) have polycystic kidney
disease. It is very rare in the world that between all the causes of
kidney insufficiency polycystic disease on the second place. On the third place is diabetes mellitus 2 what includes 13 (20%) of
the patients and on the second place are the other diseases to 9
patients (13,85%). Symptoms and seriousness of ADPKD differ
from person to person and is very har to make some long-distance
predictions. ADPKD is a slow progressive condition what means
that symptoms get worse. One half of the persons with ADPKD will
develop kidney insufficiency in adult time what demands one of
the replacement modality of kidney function what means dialysis,
peritoneal dialysis, or kidney transplantation [9,10]. Prenatal
diagnostics, as part of genetic information, provides the possibility
of prenatal diagnosis of the disease and the provision of objective
genetic counseling in accordance with ethical principles [11]. There
isn’t any specific therapy for this disease however complications
are cured and it is important to develop disease in the early stage at
the level of the primary health care in intention to prevent further
complications and improve life quality.
References
- Mao Z, Chong J, Ong ACM (2016) Autosomal dominant polycystic kidney disease: recent advances in clinical management F1000Research, 5(F1000 Faculty Rev): 2029.
- Thong KM, Ong AC (2013) The natural history of autosomal dominant polycystic kidney disease: 30- year experience from a single centre. QJM: monthly journal of the Association of Physicians 106(7): 639-646.
- Pirson Y (2010) Extrarenal manifestations of autosomal dominant polycystic kidney disease. Advances in chronic kidney disease 17(2): 173-180.
- Chapman AB, Devuyst O, Eckardt K, Ron TG, Tess H, et al. (2015) Autosomal dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney Int 88(1): 17-27.
- Torres VE, Harris PC, Pirson Y (2007) Autosomal dominant polycystic kidney disease. Lancet 369: 1287-1301.
- Ong AC, Devuyst O, Knebelmann B, Gred W (2015) Autosomal dominant polycystic kidney disease: the changing face of clinical management. Lancet 385(9981): 1993-2002.
- Grantham JJ (2008) Clinical practice. Autosomal dominant polycystic kidney disease. N Engl J Med 359(14): 1477-85.
- (2020) Acquired Cystic Kidney Disease, National Institute of Diabetes and Digestive and Kidney Diseases, NIH.
- Irazabal MV, Rangel LJ, Bergstralh EJ, Osborn SL, Armon AJ, et al. (2015) Imaging classification of autosomal dominant polycystic kidney disease: a simple model for selecting patients for clinical trials. J Am Soc Nephrol 26(1): 160-172.
- Cornec Le Gall E, Alam A, Perrone RD (2019) Autosomal dominant polycystic kidney disease. Lancet 393(10174): 919-935.
- Judita L (2017) Polycystic kidney disease, Master’s thesis. University of Zagreb, School of Medicine, Croatia.