Purpose of review: Family history of end-stage renal disease is an important risk factor for the subsequent development of nephropathy. Multiply-affected families with members demonstrating end-stage renal disease often contain individuals with disparate etiologies of renal disease. These observations have led to the search for nephropathy susceptibility genes.
Recent findings: Genetic loci associated with susceptibility to diabetic (3q, 18q22.3-23) and non-diabetic nephropathy (chromosome 10) have been identified. A mutation in the uromodulin gene (16p11-13) has recently been linked to medullary cystic kidney disease type 2 and familial juvenile hyperuricemic nephropathy. Familial focal segmental glomerulosclerosis is linked to the 1q25-31, 11q21-22, and 19q13 loci in different families. Several research groups are evaluating family members of individuals with nephropathy in an attempt to uncover previously undiagnosed cases of renal disease.
Summary: Family members of individuals with chronic kidney disease are disproportionately affected with unrecognized and asymptomatic nephropathy. Screening of these high-risk relatives for early nephropathy, and for risk factors for nephropathy, will probably lead to successful treatment for nephropathy and slow the growing worldwide epidemic of end-stage renal disease.