• Africa
• Genetic disorder
• Polycystic kidney disease
• Systematic review

• ADPKD
• hypomorphic variant
• intron
• next-generation sequencing
• single nucleotide variant

• Humans
• Introns
• Mutation
• Nucleotides
• Polycystic Kidney, Autosomal Dominant/genetics
• RNA Splice Sites
• TRPP Cation Channels/genetics

• UL1 TR002384 NCATS NIH HHS

• Functional effect
• Mutation
• PKD1 gene
• PKD2 gene
• Single nucleotide polymorphism

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the commonest of the hereditary kidney diseases and mostly ensues in utero with signs delayed until after several decades. This study assessed the demographic, diagnostic (clinical and biochemical features) and therapeutic patterns among ADPKD patients who attended the nephrology unit of Komfo Anokye Teaching Hospital (KATH) from 2007 to 2018.

This cross-sectional retrospective analysis of ADPKD patient records was conducted at the nephrology unit of KATH in October 2020. The records of 82 ADPKD was used for this study. Demographic, clinical, biochemical, ultrasonographic and therapeutic data was obtained, organized and analyzed with Statistical Package for the Social Sciences (SPSS).

ADPKD was most prevalent in people within the ages of 31–40 years (25.6 %), with a male (52.4 %) preponderance. The most common clinical features presented were flank pain (30.5 %) and bipedal swelling (18.3 %). Hypertension (42.7 %), urinary tract infections (UTIs) (19.5 %), and anemia (13.4 %) were the most common complications reported. Average level of HDL-c was higher in females (1.7) than in males (1.2) (p = 0.001). Hematuria (34 %) and proteinuria (66 %) were among the biochemical derangements presented. About 81.7 % had CKD at diagnosis with the majority in stages 1 (27.0 %), 3(23.2 %) and 5 (20.3 %). Poor corticomedullary differentiation was observed in 90.2 % of participants and increased echogenicity was observed in 89.0 % of the participants. Estimated GFR (eGFR) correlated positively with echotexture (r = 0.320, p = 0.005) and negatively with CMD (r= -0.303, p = 0.008). About 95.1 % of patients were on conservative therapy including: 73.2 %, 52.4 %, 22.0 %, 13.4 %, 8.5 % on Irebesartan/Lisinopril, Nifecard XL, Hydralazine, Methyldopa and Bisoprolol respectively for hypertension; 26.8 and 3.7 % on Gliclazide and Metformin respectively for Type 2 diabetes mellitus; 25.6 %, 24.4 and 18.3 % on CaCO₃, fersolate and folic acid respectively as nutrient supplements with 4.9 % of participants on renal replacement therapy (RRT).

ADPKD occurs in people aged ≥ 31 years with a higher male preponderance. Clinical features include flank and abdominal pain, bipedal swelling, headache, amongst others. Uremia, hematuria, proteinuria, decreased eGFR, were the common biochemical derangements reported with higher severity detected in men. The therapeutic interventions mostly involved conservative therapy to manage symptoms and other comorbid conditions and rarely renal replacement therapy (RRT).

• Autosomal dominant polycystic kidney disease
• Biochemical derangements
• Chronic kidney disease
• Clinical features
• Demographic characteristics

Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetically inherited kidney disease worldwide. It is however relatively underdiagnosed in Africans because its diagnosis is often incidental. During pregnancy, ADPKD is associated with increased risk of preeclampsia and venous thromboembolism. The case of a 33-year-old lady incidentally diagnosed with ADPKD during pregnancy is presented. She developed preeclampsia at term and had cesarean delivery of twins. She however suffered cardiopulmonary arrest postoperatively and this created a treatment dilemma because therapeutic anticoagulation which was the primary treatment for her suspected pulmonary embolism was absolutely contraindicated if the actual cause of her collapse was ruptured cerebral aneurysm which was also a feature of ADPKD. We decided to resuscitate aggressively and perform an urgent cranial computed tomography which ruled out intracranial hemorrhage. We then commenced anticoagulation and she made an excellent recovery. This case illustrates the importance of a timely multidisciplinary approach to patient management.

• Anticoagulation
• cardiopulmonary arrest
• cerebral aneurysm
• polycystic kidney disease
• postpartum collapse
• pulmonary embolism

• Africa
• Communicable Diseases
• Female
• Humans
• Noncommunicable Diseases
• Reproductive Health