Renal transplantation in patients with cryopyrin-associated periodic syndrome: A case report and literature review

Background: The cryopyrin-associated periodic syndrome (CAPS) is a rare autosomal dominant hereditary inflammatory disease clinically characterized by three overlapping types and associated with interleukin (IL)-1β.We reported a rare case of CAPS in a patient with accompanying symptoms such as growth retardation and urticaria-like rash. These clinical manifestations were caused by mutations in the NALP3 gene.

Case presentation: A 28-year-old male patient, with a height of 1.3 m and a weight of 33.4 kg. He began to experience fever, rash, joint swelling and pain, as well as recurrent cerebral infarction, delayed growth and development, and decreased hearing, among other neuroendocrine manifestations six months after birth. After being examined at Peking Union Medical College Hospital in September 2014, a mutation in the NALP3 gene related to the encoding of Cryopyrin protein was detected,leading to a diagnosis of CAPS with a high probability of CINCA.

Conclusion: This is a rare case of CAPS, a disease inherited in an autosomal dominant manner and associated with mutations in the NALP3 gene. Based on its clinical manifestations and severity, it can be divided into three subtypes. The clinical presentation involves autoimmune inflammatory disease, with inflammation affecting multiple organs throughout the body, including the joints, skin, face, and kidneys. Involvement of the kidneys can lead to kidney failure, which is one of its most severe complications.