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Saudi Journal of Kidney Diseases and Transplantation
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Year : 2010  |  Volume : 21  |  Issue : 1  |  Page : 81-86
Patterns of autosomal dominant polycystic kidney diseases in black Africans


Nephrology and Dialysis Department, Teaching Hospital Aristide, Le Dantec-Dakar BP,Dakar, Senegal

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Date of Web Publication8-Jan-2010
 

   Abstract 

Autosomal dominant polycystic kidney disease (ADPKD) is not well described in black Africans while some data suggesting the disease is exceptional in this race. A retrospective study of patients with ADPKD followed in nephrology department of a teaching hospital in Dakar (January 1, 1995 to December 31, 2005) was therefore undertaken. Prevalence of ADPKD was one in 250. Mean age was 47 ± 5 years with a predominance of male (57%). High blood pressure (HBP) was present in 68% of patients. Other renal manifestations were flank pain, hematuria and proteinuria. Majority of patients had impaired renal function at time of diagnosis. Extra-renal cysts were essentially found in liver (45.5%), pancreas and seminal vesicles. Main complications: ESRD (51%) occurred within a 6 year mean period, urinary tract infection (13%) and cerebral haemorrhage (2%). HBP control, in general needed 2 or more antihypertensive drugs. Fourteen patients died, ten patients had been on haemodialysis and four others died from uremic compli­cations. In conclusion, ADPKD in black African adults is not rare and probably underdiagnosed. Early HBP and ESRD are likely more frequent than in other races. Earlier ultrasound detection and strategies to preserve renal function should be offered to at-risk individuals to improve outcomes.

How to cite this article:
Fary Ka E, Seck SM, Niang A, Cisse MM, Diouf B. Patterns of autosomal dominant polycystic kidney diseases in black Africans. Saudi J Kidney Dis Transpl 2010;21:81-6

How to cite this URL:
Fary Ka E, Seck SM, Niang A, Cisse MM, Diouf B. Patterns of autosomal dominant polycystic kidney diseases in black Africans. Saudi J Kidney Dis Transpl [serial online] 2010 [cited 2020 Sep 28];21:81-6. Available from: http://www.sjkdt.org/text.asp?2010/21/1/81/58715

   Introduction Top


Autosomal dominant polycystic kidney disease (ADPKD) is the fourth most common cause for end-stage renal disease (ESRD) and more frequent than sickle cell disease. [1],[2] It has been described in all races [3] with similar incidence rates in white and black American patients undergoing dialysis. [4],[5] However, data are very limited in black Africans suggesting lower pre­valence rate of ADPKD in this part of the world characterized by an increasing dispro­portion between demographic explosion and healthcare resources deficiency. [6],[7],[8] The objec­tive of our study was to describe epidemio­logical, clinical and prognosis patterns of ADPKD in black African adults.


   Subjects and Methods Top


We conducted a retrospective descriptive study of patients 16-years old or above with ADPKD in nephrology department at a teaching hospi­tal in Dakar. All patients who were evaluated and then followed from January 1, 1995 till December 31, 2005 were included. This depart­ment is the only reference centre for ADPKD management in the country. Diagnosis of AD­PKD was based on clinical, and ultrasound findings. We used the following Ravine's ultra­sonographic criteria. [9] We excluded patients with acquired simple cysts, angiomyolipomas or tu­berous sclerosis and those with cysts calcifi­cations or any alteration suggestive of malig­nancy. Epidemiological, clinical and prognosis data were collected from available medical re­cords and analysed with Epi Info 3.4.3. Multi­variate analysis was performed to identify fac­tors associated with ESRD onset.


   Results Top


55 patients were enrolled and followed up in the clinic, 2 of them were excluded because of incomplete medical records. Prevalence of ADPKD during ten years of study was one in 250 patients in our department. Mean annual incidence rate was 15.6%. Mean age of pa­tients was 47 ± 5 years with a predominance of male (57%). [Figure 1] represents renal function of patients at diagnosis time. Main characte­ristics of patients are presented in [Table 1].

Blood pressure goal of less than 140/90 mmHg was achieved in 57% of patients. Hepatic func­tion tests were normal. Urine bacteriological analysis found  Escherichia More Details coli in six of seven patients with UTI whereas no bacteria was iso­lated from patients with clinical and radiolo­gical symptoms of cyst infection. All infections resolved after sufficient treatment with fluoro­quinolones (7 patients) and/or ceftriaxone (3 patients). No extra-renal cyst complication was noted. Pain episodes were easily controlled with analgesics. All diagnosed patients received ge­netic counselling and proposition for screening of their at-risk family members (offspring and ascendants). Multivariate analysis revealed male sex, hypertension and stage of kidney disease at diagnosis were the factors associated with rapid ESRD onset, [Table 2].

Fifty one per cent of patients reached ESRD within a mean follow-up period of 6 ± 2 years. Six men and four women undergoing hemo­dialysis and four other patients died from ure­mic complications.


   Discussion Top


ADPKD occurs in all races but many va­riations exist in prevalence reported from di­fferent regions. One study from Minnesota (USA) estimated prevalence to be between one in 1000 (clinically diagnosed cases only) and one in 400 when autopsy cases were included. [10]

Prevalence is lower in Europe and Asia where available studies reported one per 1111, one per 2459 and one per 4033 respectively in France [11] , Wales [12] and Japan. [13]

In African continent, a few and scarce data are available. One population-based study in Seychelles reported a prevalence of one in 544 in white population but the disease was excep­tional in black individuals. [7] In Senegal, Ka MM et al have previously found 29 cases in seven years [6] and sporadic cases were reported from East and West Africa. [8],[14] Data are scarcer among children black Africans where cystic kidney disease is less important compared to the more common infectious and other causes of renal failure. [15] In a fifteen-year experience of chronic renal failure aetiologies in Nigerian children, no case of polycystic kidney disease was found. [16] Polycystic kidney disease was also less reported among south African black children than in white. [17],[18] Although our hospital­based results may overestimate prevalence in general population, they suggest that ADPKD is not as rare as thought before.

HBP in our ADPKD patients was present ear­lier on and in a higher prevalence than reported in other studies. [3],[7],[19] This was also a significant factor linked to higher proportion of ESRD in our patients who were seen late by a specialist. At stage 5 of chronic kidney disease, HBP is found in nearly all patients. [20] In our patients men had higher blood pressure and were more likely to end up on dialysis as reported by others. [3],[21] But some authors found a higher pre­valence among women. [6],[19] Variability in age at ESRD onset is not well understood and may result from genetic and environmental factors. [21] We were unable to perform genetic testing in our patients, however these tests are not indis­pensable to diagnosis when clinical and ima­ging patterns are evident. There is a wide inter­familial and intrafamilial variability and geno­type variants are not always of clinical signi­ficance. [3],[22] Even if ESRD is more frequent with PKD1 mutation, no clear correlations have been demonstrated between manifestations and mu­tation type in PKD1, or mutation type or po­sition in PKD2. [23] Genetic testing should be pro­posed when there is need for certainty of diag­nosis and in presymptomatic adults in order to select a living related transplantation donor.

Angiotensin converting enzyme (ACE) inhibi­tors and angiotensin receptor blockers (ARB) were largely used in our patients with norma­lization of blood pressure in 57% of patients as proven in other studies although contested by some. [24],[25],[26],[27] An ongoing trial comparing ACE in­hibitors plus ARB versus ACE inhibitors alone will determine whether low level of blood pre­ssure (< 110/75 mmHg) is better than a stan­dard target (< 130/80 mmHg) in patients with preserved renal function. [28]

Pain is the most common symptom reported in adults with ADPKD [29] but was less frequent than HBP in our study. It was usually sensitive to analgesic drugs and no surgical treatment was needed. Among the extra renal manifestations; liver cysts were the main extra-renal manifes­tation with a predominance in women as pre­viously described. [3] Other reported extra-renal manifestations such as colonic diverticular di­sease, mitral valvulopathy, intracranial aneu­rysm and arachnoid membrane cysts were rare but may be underestimated because they were not specifically looked for in asymptomatic patients. [30],[31]

In more than half of our patients, late diag­nosis and referral to nephrologists were the main reasons for the high occurrence of ESRD at diagnosis and within a short follow-up pe­riod. Other factors like male sex, early onset of HBP and sickle cell trait may also be, associa­ted with rapid decline of renal function in our patients. [4],[32] Whether race and specific ACE genotypes are risk factors of more progressive disease is uncertain. [3] Nevertheless the main­stay of slowing the progression of chronic kid­ney disease in ADPKD patients is better con­ trol of HBP. [33]

In conclusion, ADPKD is not an uncommon disease in Africans and is associated with si­milar complications as reported elsewhere. Early intervention in control of conventional risk factors of chronic kidney disease will help re­duce the burden of ESRD in ADPKD patients.

 
   References Top

1.Grantham J, Cowley B, Torres VE. Progression of autosomal dominant polycystic kidney di­sease (ADPKD) to renal failure. In: Seldin D, Giebisch G (eds). The Kidney: Physiology and Pathophysiology, Vol 2 Philadelphia: Lippincott Williams and Wilkins, 2000:2513-36.  Back to cited text no. 1      
2.Gabow PA. Autosomal dominant polycystic kidney disease. N Engl J Med 1993;329:332-­42.  Back to cited text no. 2  [PUBMED]  [FULLTEXT]  
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4.Yium J, Gabow P, Johnson A, Kimberling W, Martinez-Maldonado M. Autosomal dominant polycystic kidney disease in blacks: Clinical course and effects of sickle-cell hemoglobin. J Am Soc Nephrol 1994;4(9):1670-4.  Back to cited text no. 4      
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8.Okeahialam BN, Pam SD, Ekedigwe JE, Ekwempu CC. Familial polycystic kidney disease in Nigeria: A report of two cases. West Afr J Med 2006;25(3):249-51.  Back to cited text no. 8      
9.Ravine D, Gibson RN, Walker RG, Sheffield LJ, Kincaid-Smith P, Danks DM. Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease. Lancet 1994;343:824-7.  Back to cited text no. 9  [PUBMED]  [FULLTEXT]  
10.Iglesias CG, Torres VE, Offord KP, Holley KE, Beard M, Kurland LT. Epidemiology of adult polycystic kidney disease, Olmsted County, Minnesota. Am J Kidney Dis 1983;2:630-9.  Back to cited text no. 10      
11.Simon F, LeGoff JY, Ang KS, Charasse C, Le Cacheux P, Cam G. Epidemiologic data, clini­cal and prognostic features of autosomal domi­nant polycystic kidney disease in a French region. Nephrologie 1996;17:123-30.  Back to cited text no. 11      
12.Davies F, Coles GA, Harper PS, Williams AJ, Evans C, Cochlin D. Polycystic kidney disease re-evaluated: a population-based study. Q J Med 1991;79:477-85.  Back to cited text no. 12  [PUBMED]  [FULLTEXT]  
13.Higashihara E, Nutahara K, Kojima M, et al. Prevalence and renal prognosis of diagnosed autosomal dominant polycystic kidney disease in Japan. Nephron 1998;80:421-7.  Back to cited text no. 13  [PUBMED]  [FULLTEXT]  
14.Habte B, Abraha A. Adult polycystic kidney disease in Ethiopians. Ethiop Med J 1983;21 (3):193-6.  Back to cited text no. 14      
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16.Anochie I, Eke F. Chronic renal failure in children: a report from Port Harcourt, Nigeria (1985-2000). Pediatr Nephrol 2003;18:692-5.  Back to cited text no. 16  [PUBMED]  [FULLTEXT]  
17.Meyers KE, Thomson PD, Jacobs DW, Kala UK. Pediatric nephrology experience: Johannesburg and Baragwanath Hospitals, 1982-1988 inclusive (abstract). Kidney Int 1991;39:361.  Back to cited text no. 17      
18.Lombard EH, Kromberg JG, Thomson PD, Milner LS, Biljon G van, Jenkins T. Autosomal recessive polycystic kidney disease. S Afr Med J 1989;76:321-3.  Back to cited text no. 18      
19.Romao EA, Moyses Neto M, Teixeira SR, et al. Braz J Med Biol Res 2006;39(4):533-8.  Back to cited text no. 19      
20.Kelleher CL, McFann KK, Johnson AM, Schrier RW. Characteristics of hypertension in young adults with autosomal dominant polycystic kid­ney disease compared with the general US population. Am J Hypertens 2004;17(11 part 1):1029-34.  Back to cited text no. 20      
21.Reed BY, McFann K, Reza Bekheirnia M, et al. Variation in age at ESRD in autosomal domi­nant polycystic kidney disease. Am J Kidney Dis 2008;51(2):173-83.  Back to cited text no. 21      
22.Persu A, Duyme M, Pirson Y, et al. Compa­rison between siblings and twins supports a role for modifier genes in ADPKD. Kidney Int 2004;66:2132-6.  Back to cited text no. 22  [PUBMED]  [FULLTEXT]  
23.Magistroni R, He N, Wang K, et al. Genotype­renal function correlation in type 2 autosomal dominant polycystic kidney disease. J Am Soc Nephrol 2003;14:1164-74.  Back to cited text no. 23  [PUBMED]  [FULLTEXT]  
24.McPherson EA, Luo Z, Brown RA, et al. Chymase-like angiotensin II-generating activity in end-stage human autosomal dominant polycystic kidney disease. J Am Soc Nephrol 2004;15:493-500.  Back to cited text no. 24  [PUBMED]  [FULLTEXT]  
25.Torres VE, Donovan KA, Scicli G, et al. Syn­thesis of renin by tubulocystic epithelium in autosomal-dominant polycystic kidney disease. Kidney Int 1992;42:364-73.  Back to cited text no. 25  [PUBMED]  [FULLTEXT]  
26.Steinman TI. Renal and cardiac effects of anti­hypertensive treatment with ramipril versus metoprolol in autosomal dominant polycystic kidney disease. Nephrol Dial Transplant 2008; 23:431-3.  Back to cited text no. 26  [PUBMED]  [FULLTEXT]  
27.Jafar TH, Stark PC, Schmid CH, et al. The effect of angiotensin-converting-enzyme inhibitors on progression of advanced polycystic kidney disease. Kidney Int 2005;67:265-71.  Back to cited text no. 27  [PUBMED]  [FULLTEXT]  
28.Steinman T, Schrier R, Torres V, et al. HALT PKD Study: efficacy of renin-angiotensin­aldosterone system (RAAS) blockade in pre­venting/ slowing renal function decline in auto-somal dominant polycystic kidney disease (ADPKD) NIH/NIDDK for the HALT PKD Study. JASN 2007;18:SAP0100 (Abstract).  Back to cited text no. 28      
29.Bajwa ZH, Sial KA, Malik AB, Steinman TI. Pain patterns in patients with polycystic kidney disease. Kidney Int 2004;66:1561-9.  Back to cited text no. 29  [PUBMED]  [FULLTEXT]  
30.Scheff RT, Zuckerman G, Harter H, Delmez J, Koehler R. Diverticular disease in patients with chronic renal failure due to polycystic kidney disease. Ann Intern Med 1980;92:202-­4,  Back to cited text no. 30  [PUBMED]  [FULLTEXT]  
31.Elzinga LW, Bennett WM. Miscellaneous renal and systemic complications of autosomal dominant polycystic kidney disease including infection. In: Watson ML, Torres VE, eds. Polycystic kidney disease. Oxford: Oxford Medical Publications, 1996;483-99.  Back to cited text no. 31      
32.Johnson A, Gabow P. Identification of patients with autosomal dominant polycystic kidney disease at highest risk for end-stage renal disease. J Am Soc Nephrol 1997;8:1560-7  Back to cited text no. 32      
33.Gonzalo A, Gallego A, Rivera M, Orte L, Ortuno J. Influence of hypertension on early renal insufficiency in Autosomal dominant polycystic kidney disease. Nephron 1996;72: 225-30.  Back to cited text no. 33      

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Correspondence Address:
Sidy Mohamed Seck
Nephrology and Dialysis Department, Teaching Hospital Aristide, Le Dantec-Dakar BP, Dakar
Senegal
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