Clinical presentation and outcome of autosomal dominant polycystic kidney disease in Nigeria

Abstract

Abstract:Introduction: Autosomal Dominant Polycystic Kidney Disease (ADPKD) is presumably rare in Africa. Knowledge about the disease in Nigeria is limited as demonstrated by scanty articles on the subject. Objectives: To determine the pattern of clinical presentation and outcome of ADPKD among ADPKD patients. Method: ADPKD subjects were prospectively studied between January 1996 and December 2010. Their demographics, clinical and investigation parameters were documented. Dependency on dialysis, renal transplant and death were the final outcomes. Results: Forty one patients (M:F=1.3:1) with mean age of 48.6±4.6 years were studied. ADPKD was diagnosed at 2.73 cases per annum. Family history of ADPKD and hypertension were present in 56.1% and 82.9% respectively. Their mean systolic and diastolic blood pressures were 166.9 ±23.6 and 104 ±21.2 respectively. Nocturia (78.0%) and loin pain (68.3%) were the most common presenting symptoms. Liver cysts (31.7%) and aortic regurgitation (22.0%) were the predominant extra-renal manifestations. Twenty three (56.1%) received haemodialysis; no renal transplantation. Death rate was 51.2%. Presence of uraemia and intra-cerebral aneurysm contributed significantly to mortality. Conclusion: ADPKD may not be so rare in Nigeria. Awareness campaign to change attitude of family members to screening and further studies using newer criteria for diagnosis of ADPKD should be conducted.

Suspected pulmonary embolism postcesarean section in a patient with autosomal dominant polycystic kidney disease

“…However, in resource-poor settings, diagnosis is by clinical judgment and renal ultrasound. 1 2 6 Milutinovic et al in their series found 36% of patients with ADPKD to be asymptomatic, normotensive, and without previous problems. 7 This was also the case in our patient.…”

“…In conclusion, ADPKD may be incidentally discovered during pregnancy, especially in resource-constrained settings where genetic counseling and testing are not widely available. 1 2 6 While these pregnancies are fortunately often uneventful, possible complications such as late-onset preeclampsia should be anticipated and expertly managed. In the event of potentially catastrophic complications of ADPKD such as thromboembolism or cerebral hemorrhage, a timely multidisciplinary approach to care with careful determination of the correct diagnosis by maximizing the available resources even in resource-constrained settings can be lifesaving.…”

“…Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetically inherited kidney disease worldwide, affecting 1:400–1:1,000. 1 2 It is relatively underdiagnosed among Sub-Saharan Africans. 1 In pregnancy, women with ADPKD are at increased risk of hypertension and preeclampsia.…”

“… 1 2 It is relatively underdiagnosed among Sub-Saharan Africans. 1 In pregnancy, women with ADPKD are at increased risk of hypertension and preeclampsia. 3 They also have increased risk of thromboembolism due to venous compression by the enlarged cystic kidneys.…”

Progress in infections, reproductive health and non-communicable diseases

“…Several genetic disorders come to the fore: cystic fibrosis in Tunisia23, autosomal dominant polycystic kidney disease24, and hemophilia25.…”