A 55-year-old man was diagnosed with autosomal dominant polycystic kidney disease (ADPKD) at the Medicover Hospital in Navi Mumbai, caused by a genetic fault that disrupts the normal development of some cells in the kidneys and causes cysts to grow. Faults in one or two different genes are known to cause ADPKD.
The patient arrived at the emergency department in critical condition, experiencing severe abdominal pain and he was passing blood in his urine. He had been on dialysis for several years and had become dependent on his family for constant support to carry out basic functions, including his daily ablutions.
He then underwent a nephrectomy for the removal of a massive cyst measuring about 35 cm in his kidney and this had to then be followed with a transplant, said doctors.
“On arrival, the patient lost a lot of blood from urine and was in hypotension. In ADPKD, the kidney is replaced by a fluid-filled cyst, which is huge in mass. Over time, his abdomen became severely distended, and he experienced discomfort which worsened as time passed. When the bleeding started, he knew his condition had become life-threatening. This was a sporadic and challenging case due to the size and complexity of the kidney mass - not only was it enlarged but the whole abdomen was tensed, making surgical removal meticulous and demanding. We opted for an open approach because cysts occupied the entire abdomen,” Dr Vikas Bhise, Urologist, Medicover Hospital, told THE WEEK.
"The case was challenging as normal anatomy of the abdomen is lost. With careful planning, the surgery was completed in two hours with minimal blood loss, and the patient required no postoperative transfusion. Not treating him at the right time could have led to severe blood loss," he added.
The patient was discharged three days after the surgery and is now on the path of recovery, say doctors.
Last year, a group of researchers conducted a study aimed to determine the risk of ADPKD progression in Indian patients. Published in the Indian Journal of Nephrology, the study noted that “in developing countries like India where there is poor accessibility to genetic studies and higher cost for radiology services, clinical parameters are important tools in predicting the risk of ADPKD progression.”
Accordingly, a retrospective study was done from 2006 to 2021 with ADPKD patients classified into three risk groups: low-risk, intermediate-risk and high-risk. Diagnosis of ADPKD was considered if at least three renal cysts are present in patients aged 15-39 years, two cysts in each kidney in patients aged 40–59 years, and four or more cysts in each kidney in patients aged more than 60 years. It was found that Hypertension is common in the early stages of ADPKD with normal renal function, increased frequency of urinary tract infection in ADPKD to be associated with rapid progression of renal failure and in cases where genetic analysis is available, most of the risk is explained by the genetic mutation.
Autosomal dominant polycystic kidney disease (ADPKD), is reportedly the most common monogenic hereditary kidney disease and the fourth leading cause of end-stage kidney disease worldwide. In recent years, significant progress has been made in delaying ADPKD progression with different kinds of chemical drugs, and just last week the Central Drugs Standard Control Organisation (CDSCO), approved Jardiance (empagliflozin) 10 mg tablets to reduce the risk of sustained decline in patients with end-stage or chronic kidney disease (CKD) at risk of progression.
