Tubulointerstitial nephritis is a dominant feature of hereditary apolipoprotein A-I amyloidosis
| Autor: | Pietro Ravani, Tiziano Scalvini, Gina Gregorini, Alessandro Negrinelli, Giampaolo Merlini, Andrea Del Barba, L. Biasi, Claudia Izzi, Francesco Scolari, Nadia Dallera, Laura Obici, Matilde Nardi, Regina Tardanico |
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| Rok vydání: | 2015 |
| Předmět: |
Adult
Male Heterozygote Pathology medicine.medical_specialty Apolipoprotein B medicine.medical_treatment Penetrance Testicular Diseases chemistry.chemical_compound medicine Humans Longitudinal Studies Age of Onset Dialysis Aged Retrospective Studies Apolipoprotein A-I biology medicine.diagnostic_test Cholesterol business.industry Hypogonadism Liver Diseases Amyloidosis Cholesterol HDL Middle Aged Alkaline Phosphatase medicine.disease chemistry Nephrology Creatinine biology.protein Nephritis Interstitial Female lipids (amino acids peptides and proteins) Renal biopsy business Amyloidosis Familial Nephritis Glomerular Filtration Rate Lipoprotein |
| Zdroj: | Kidney International. 87:1223-1229 |
| ISSN: | 0085-2538 |
| DOI: | 10.1038/ki.2014.389 |
| Popis: | Apolipoprotein A-I is the main protein of high-density lipoprotein particles, and is encoded by the APOA1 gene. Several APOA1 mutations have been found, either affecting the lecithin:cholesterol acyltransferase activity, determining familial HDL deficiency, or resulting in amyloid formation with prevalent deposits in the kidney and liver. Evaluation of familial tubulointerstitial nephritis in patients with the Leu75Pro APOA-I amyloidosis mutation resulted in the identification of 253 carriers belonging to 50 families from Brescia, Italy. A total of 219 mutation carriers underwent clinical, laboratory, and instrumental tests. Of these, 62% had renal, hepatic, and testicular disease; 38% were asymptomatic. The disease showed an age-dependent penetrance. Tubulointerstitial nephritis was diagnosed in 49% of the carriers, 13% of whom progressed to kidney failure requiring dialysis. Hepatic involvement with elevation of cholestasis indices was diagnosed in 30% of the carriers, 38% of whom developed portal hypertension. Impaired spermatogenesis and hypogonadism was found in 68% of male carriers. The cholesterol levels were lower than normal in 80% of the mutation carriers. Thus, tubulointerstitial nephritis was highly prevalent in this large series of patients with Leu75Pro apoA-I amyloidosis. Persistent elevation of alkaline phosphatase, reduced HDL cholesterol plasma levels, and hypogonadism in men are key diagnostic features of this form of amyloidosis. |
| Databáze: | OpenAIRE |
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