On October 29, 2022 China Conference on Rare Diseases was held in Beijing, soliciting cases of rare diseases from all medical institutions in China. Under the guidance of Lu Wanhong, Director of Department of Nephrology of the First Affiliated Hospital of Xi’an Jiaotong University (XJTU), a group of primary hyperoxaluria cases from Physician Li Yan were recommended for this conference. After preliminary review, online voting and expert review, this case stood out from 104 selected cases. This is the only selected case from our hospital, and this is also the first case of primary hyperoxaluria diagnosed in our hospital, captivating widespread attention from experts and professors nationwide.
In 2022, a patient with end-stage renal disease caused by multiple bilateral renal calculi was admitted and treated in Department of Nephrology. The age of onset was young with elusive symptoms. Upon diagnosis, the patient developed clinical manifestations resembling end-stage renal disease, significantly different from those of common obstructive nephropathy. After in-depth discussion, literature review, differential diagnosis and genetic testing, the patient was diagnosed with type 1 primary hyperoxaluria, which deepened the understanding of urinary calculi and chronic kidney disease. Subsequently, similar cases from several families were admitted and treated in our hospital. During the process of diagnosis and treatment, with tremendous support from pathological examination of nephrology laboratory and Clinical Laboratory, Department of Nephrology conducted multidisciplinary cooperation with Department of Urology, Department of Kidney Transplantation, Department of Blood Purification, Department of Ophthalmology and Department of Orthopedics to provide one-stop service for all patients from early diagnosis, mid-term examination guidance and all-round nursing follow-up, subsequent transplantation and postoperative complications.
On November 1, MDT discussion session of genetic metabolism and rare endocrine diseases was launched. Physician Li Yan delivered a case report, and conducted extensive and in-depth discussion with experts in the field of urology, receiving widespread recognition by the experts. Director Lu Wanhong further sorted out the difficulties in diagnosis and treatment of such cases, hoping to establish a better platform for rare diseases under the leadership of China Alliance for Rare Diseases to strengthen partnership among hospitals. Through academic discussion, relevant experts deepened their understanding of primary hyperoxaluriaand highly recognized the collection, follow-up and diagnosis and treatment of such cases in our hospital.
