Aortic Dissection in Familial Patients With Autosomal Dominant Polycystic Kidney Disease Ⅱ

Discussion 

ADPKD is the most common congenital renal cystic disease with an estimated prevalence of between one in 1000 and one in 2500 individuals.1) Its course is characterized by the development and inexorable expansion of multiple cysts scattered throughout the kidney parenchyma. ADPKD patients have a 10% incidence of intracranial aneurysms.2) Mitral valve prolapse occurs in up to 26% of PKD-1 patients.3) Aortic dissection is a rare complication of ADPKD, and there are few reports on the frequencies of aortic aneurysm and aortic dissection. ADPKD is genetically heterogeneous, and the PKD 1 and PKD 2 genesʼ mutation contributes to its development. Mutations in PKD genes that encode polycystin, which is often expressed in vascular smooth muscle, including the kidney, are suggested to cause comorbid cysts and cardiovascular abnormalities. In mouse model research, PKD 1 has been implicated in maintaining vessel wall structural integrity.4) This is a rare report of aortic dissection in ADPKD familial patients successfully repaired with an artificial graft to the best of our knowledge. The congenital polycystic kidney and multiple renal cysts detected by CT fulfill the ADPKD criteria of Ravine et al.5) An interesting finding is that the three family members similarly suffered from an aortic dissection. The reason for the histological difference between the mother and the daughter is unclear. Although medial cystic necrosis appeared in the motherʼs aortic wall, it was undetected in the daughter. Cystic medial necrosis may not necessarily cause aortic dissection. Other factors, including changes in the extracellular matrix or cellular interaction from PKD gene mutation, may cause aortic dissection.

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The mother and daughter were diagnosed with ADPKD before the onset of acute aortic dissection (AAD), implying an important finding that the cause of their AAD was ADPKD. Hypertension and renal failure associated with ADPKD were considered significant risk factors for aortic dissection following arteriosclerosis.6) A systematic review described a markedly higher frequency of hypertension and younger age in aortic dissection patients with ADPKD than the overall aortic dissection population. The earlier aortic dissection manifestation and the possible lack of symptoms suggestive of aortic dissection in ADPKD patients underline the importance of performing close clinical screening from a young age.6) Antihypertensive therapy may prevent renal failure in ADPKD patients.7)

Regarding the emergency treatment of acute aortic dissection, antihypertensive therapy is crucial for preventing the progress of the dissection and organ malperfusion. The renin-angiotensin system activity is reportedly increased in ADPKD. Antihypertensive therapy using an angiotensin-converting-enzyme inhibitor may be effective in acute aortic dissection patients with ADPKD.8)

In conclusion, we successfully treated acute type A aortic dissection in ADPKD familial patients. For comprehensive evaluation and treatment, ADPKD patients and their families should be screened regularly for aortic diseases.

Acknowledgments 

We thank Dr. Edward Barroga (http://orcid.org/ 0000-0002-8920-2607) for reviewing and editing the manuscript. 

Disclosure Statement 

All authors have no conflicts of interest. 

Author Contributions 

Study conception: YI, MO Data collection: YI, MK, MA, KY, MO Analysis: YI Investigation: YI Writing: YI Funding acquisition: No one Critical review and revision: all authors Final approval of the articles: all authors Accountability for all aspects of the work: all authors 

References 

1) Cornec-Le Gall E, Alam A, Perrone RD. Autosomal dominant polycystic kidney disease. Lancet 2019; 393: 919-35. 

2) Zhou Z, Xu Y, Delcourt C, et al. Is regular screening for intracranial aneurysm necessary in patients with autosomal dominant polycystic kidney disease? A systematic review and meta-analysis. Cerebrovasc Dis 2017; 44: 75-82. 3) Lumiaho A, Ikaheimo R, Miettinen R, et al. Mitral valve prolapse and mitral regurgitation are common in patients with polycystic kidney disease type 1. Am J Kidney Dis 2001; 38: 1208-16. 4) Hassane S, Claij N, Lantinga-van Leeuwen IS, et al. Pathogenic sequence for dissecting aneurysm formation in a hypomorphic polycystic kidney disease 1 mouse model. Arterioscler Thromb Vasc Biol 2007; 27: 2177-83. 5) Ravine D, Sheffield L, Danks DM, et al. Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1. Lancet 1994; 343: 824-7. 6) Silverio A, Prota C, Di Maio M, et al. Aortic dissection in patients with autosomal dominant polycystic kidney disease: a series of two cases and a review of the Literature. Nephrology (Carlton) 2015; 20: 229-35. 

7) Schrier RW, Mcfann KK, Johnson AM. Epidemiological study of kidney survival in autosomal dominant polycystic kidney disease. Kidney Int 2003; 63: 678-85. 

8) Loghman-Adham M, Soto CE, Inagami T, et al. Expression of components of the renin-angiotensin system in autosomal recessive polycystic kidney disease. J Histochem Cytochem 2005; 53: 979-88.