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Although the combination of Alport syndrome with Henoch-Schonlein purpura nephritis has been rarely reported in the past, a case found in our department is reported as follows.
The patient, a 31-year-old female, was admitted to the hospital in October 2023 with the chief complaint of "rash on both lower limbs for more than one month, aggravated for two days". There is no significant previous history, marital history, or personal history. In terms of family history, the patient's father once had a urine routine test showing occult blood 3+ and red blood cells 60/ul; her sister had nephritis. On physical examination, the patient's pulse was 78 times/min, blood pressure was 120/80mmHg, there was no edema in the eyelids or face, and no obvious abnormalities were found in heart, lung, or abdominal examinations. The skin rash was visible on both lower limbs ranging from pinpoint size to that of a grain of rice.
Blood routine test: platelet count 398×109/L;Urine routine test: urine protein 1+, occult blood 3+, erythrocyte count 258.8/ul;24-hour urinary protein quantification: 682.20mg/24h;Blood lipid test: serum triglyceride level 2.01mmol/L;Anti-nuclear antibody spectrum thirteen: ANA(+);Complement and immunoglobulin levels: C3 1.550g/L, C4 0.401g/L, IgG 17.8g/L. Chest CT revealed small nodules in the upper lobes of both lungs, partially hardened;mild fatty liver. Abdominal ultrasound showed gallstones and fatty liver.Cardiac ultrasound did not show significant abnormalities.ECG indicated sinus heart rate with no significant abnormalities.
Renal biopsy (Fig.1) : Light microscopy shows 21 glomeruli, one of which is ischemic sclerosis. The rest of the mesangial cells and stroma had mild focal segmental hyperplasia, the mesangial region had reflobulin deposition, the capillary loops were open, and a small cell crescent was formed. Immunofluorescence: IgA (++) deposited as comas along the mesangial region. The expression of a3 glomerular basement membrane and renal tubule basement membrane was decreased. a4 expression was normal; The expression of a5 glomerular basement membrane, Bowman's capsule and basement membrane of renal tubules was deficient. Electron microscopy: diffuse thinning of basement membrane,＜250nm, foot process segmental fusion, a few mesangial areas can be seen electron dense deposition, morphology considered thin basement membrane nephropathy, but not excluding early Alport syndrome. Pathological diagnosis: 1.Combined with the clinic, it was consistent with focal proliferative purpura nephritis, ISKD:Ⅲa; 2. Thin basement membrane can be seen under electron microscope. Gene detection: The mutation of c.3679G >A of gene COL4A4 was an unknown mutation site, suggesting Alport syndrome type 2, AR; Benign familial hematuria type 1, AD (Fig 2,Tab.1).
After the discovery of skin lesions, the patient underwent a series of examinations which ultimately confirmed the presence of Henoch-Schonlein purpura nephritis on top of the Alport syndrome.
