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논문분류	춘계학술대회 초록집
제목	Familial Mediterranean Fever, Autosomal Recessive: Amyloid Nephrosis in the Practice of a Pediatric Nephrologist.
저자	Aldashova Aruzhan
출판정보	2025; 2025(1):
키워드	Amyloid nephrosis, Familial Mediterranean fever, Anti-RO52 , MEFV gene, Colchicine therapy
초록	Introduction: Amyloidosis is a group of rare diseases and pathologically is characterized by abnormal deposition of fibril-like insoluble amyloid protein in body organs, causing organ damage that leads to death. Case presentation: A 17-year-old boy, nationality: turyuk, is admitted for the first time as planned, complaining of pain in the joints of the lower extremities, lameness, accompanied by a periodic increase in body temperature in the range from 38C to 40C, hemorrhagic rashes, a single bruising rash on the shins, thighs, the latter is relieved by normathermia, episodes of arterial hypertension alternating with hypotension. The disease has been debuting since May 2024, in analyses: protein 3,3-6,6-16,1 g/l, total protein 69.54-41 g/L, albumin 28-21 g/L, urea 3.9 mmol/L, creatinine 54 mmol/L, daily proteinuria 9.9 g/L, : ADCC < 7.00 U/ml, antinuclear antibodies 31.5 AU/ml. Consultation with rheumatologists and immunologists: The immunoblot was repeated, a weak positive value of Anti-RO52 was found, other markers remain negative. SLE is not the main diagnosis, the diagnosis is not differentiated autoinflammatory syndrome. Recommended: Colchicine 0.5 mgh2r/d, inside; Anakinra 100 mg/day, subcutaneously. Diagnostic nephrobiopsy was performed: Amyloid nephrosis with mild fibrosis and focal moderate lymphocytic infiltration of the intervertebral tissue. Consulted with nephrologists in the Republic of Russia: Familial Mediterranean fever, autosomal recessive (MEFV gene), high activity, severe severity, the above is beyond doubt, continue Colchicine therapy, discontinue GCS therapy. Taking into account the primary steroid-resistant variant of nephrotic syndrome, a molecular genetic study was conducted: full-exome sequencing: in progress. Conclusions: Amyloid nephrosis is rare, the first time it has occurred in Kazakhstan. the prognosis of the disease is serious in terms of a progressive decrease in renal function to a dialysis level, the risks of bacterial complications against the background of severe hypoimmunoglobulinemia, hypoalbuminemia.
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