An aid to the diagnosis of genetic disorders underlying adult-onset renal failure: a literature review

作者：Joosten H^*; Strunk A L M; Meijer S; Boers J E; Aries M J H; Abbes A P; Engel H; Beukhof J R

来源：Clinical Nephrology, 2010, 73(6): 454-472.

• chronic kidney failure
• end-stage renal disease
• genetics
• autosomal dominant medullary cystic disease
• glomerulocystic disease
• hereditary nephritis
• autosomal dominant polycystic kidney disease
• nephropathies associated with uromodulin
• medullary cystic disease
• familial juvenile hyperuricemic nephropathy
• renal cysts and diabetes syndrome
• nail-patella syndrome
• nephronophthisis
• primary oxalosis
• Lecithin-cholesterol acyltransferase deficiency
• Fabry disease
• Alport syndrome
• cystinosis
• glomerulopathy with fibronectin deposits
• adenine phosphoribosyl transferase deficiency

Several genetic disorders can present in adult patients with renal insufficiency. Genetic renal disease other than ADPKD accounts for ESRD in 3% of the adult Dutch population. Because of this low prevalence and their clinical heterogeneity most adult nephrologists are less familiar with these disorders. As a guideline to differential diagnosis, we provide an overview of the clinical manifestations and the pathogenesis of the main genetic disorders with chronic renal insufficiency surfacing in adulthood and add an algorithm plus 4 tables. We also indicate where molecular genetics nowadays can be of aid in the diagnostic process. The following disorders are discussed by mode of inheritance: 1) Autosomal dominant: autosomal dominant polycystic kidney disease, nephropathies associated with uromodulin (medullary cystic disease and familial juvenile hyperuricemic nephropathy), renal cysts and diabetes syndrome, nail-patella syndrome, glomerulopathy with fibronectin deposits. 2) Not autosomal dominant: Nephronophthisis, Fabry disease, primary oxalosis, Adenine Phosphoribosyl Transferase deficiency, Alport syndrome, Lecithin-cholesterol acyltransferase deficiency, adult-onset cystinosis

• 出版日期2010-6