Catastrophic extrarenal manifestation of autosomal dominant polycystic kidney disease: lessons learnt

Description

We present a case of a young man known to have autosomal dominant polycystic kidney disease (ADPKD), with multiple renal and hepatic cysts and stage G3 chronic kidney disease. He presented with an epigastric and lower substernal chest pain, of 6-hour duration, that radiated to the back and was associated with nausea and vomiting. He was diaphoretic, and cardiovascular examination revealed a new diastolic murmur at the left lower sternal border. His labs showed a creatinine level of 650 mmol/L, a urea level of 41 mg/dL and a potassium level of 5.8 mEq/L. An arterial blood gas analysis showed a pH level of 7.28 and a lactate level of 3.3 mmol/L. Troponin T levels were elevated, and his ECG showed a Mobitz type 1 second degree heart block, without any ischaemic changes. His symptoms were attributed to uraemia, and he was admitted to undergo haemodialysis. He underwent 4 hours of haemodialysis, which did not ease his symptoms. Six hours later, his epigastric and lower chest pains became unbearable. A repeat arterial blood gas analysis showed a pH level of 7.14 and a lactate level of 9.2 mmol/L. At this stage, aortic dissection was suspected and CT angiogram of the chest, abdomen and pelvis was done and revealed a Stanford type A and DeBakey type I aortic dissection involving the aortic valve and extending to the abdominal aorta with the coeliac, superior and inferior mesenteric, and left renal arteries arising from the false lumen (figures 1 and 2). The patient was referred for an emergency aortic arch reconstruction 12 hours after presentation. The procedure was successful, but his postoperative course was complicated by multiorgan failure, sepsis, atrial flutter and small bowel ischaemia.

Figure 1.

Coronal CT angiogram of the abdomen showing an aortic dissection, along with multiple renal and hepatic cysts.

Figure 2.

Three-dimensional CT angiogram showing a dissection arising from the ascending aorta and extending proximally to the innominate and left subclavian arteries and distally to the abdominal aorta.

Aortic dissection is a medical emergency characterised by an intimal tear, resulting in an enclosed haematoma, thus creating a false lumen that can easily rupture into the pericardium, pleura or mediastinum.¹ The diagnosis of aortic dissection requires a high index of suspicion, as the early symptoms may mimic those of other diseases, depending on its location (eg, myocardial infarction, acute pancreatitis, pulmonary embolism and uraemia).²

This case highlights the devastating consequences of delaying the diagnosis and referral for surgery.

ADPKD is a systemic disease with various manifestations. This case highlights the importance of recognising the association between ADPKD and aortic dissection. Reports of higher prevalence of aortic aneurysms and dissection are available in the literature.³ However, it is partially attributed to the development of hypertension at an early age. Our patient developed extensive aortic dissection at a young age, despite not having hypertension. Hence, we believe that patients with ADPKD should be investigated for intracranial, coronary and aortic vascular anomalies to prevent such devastating outcomes.

Learning points.

• ADPKD is a systemic disease with various manifestations.

• Patients with ADPKD should be offered an appropriate and timely investigation for intracranial, coronary and aortic vascular anomalies.

• Early recognition of aortic dissection requires a high index of suspicion, as initial clinical features can resemble those of other medical conditions.