Familial Benign Essential Hematuria

Thin Basement Membrane Nephropathy

“…Hematuria has been diagnosed at all ages (8,11,43), and several studies have indicated that the disease is somewhat more common in female than in male individuals, among both children and adults (8,17,18,27,(42)(43)(44)(45)(46)(47), but other studies have not revealed such findings (26,48 -50). Exact prevalence of the disease is difficult to assess, as the diagnosis is made mostly on the basis of persistent hematuria combined with minimal proteinuria, whereas the number of electron microscopic analyses of renal biopsies showing thinned basement membrane have become less common (51).…”

“…The characteristic clinical manifestation of TBMN is persistent microscopic hematuria (1)(2)(3)8,11,16,17,26,27,43,44,46,57). Most patients with TBMN present only with hematuria, without additional symptoms or progression to renal impairment, and the condition is usually incidentally detected during health control.…”

“…Most patients with TBMN present only with hematuria, without additional symptoms or progression to renal impairment, and the condition is usually incidentally detected during health control. The age at diagnosis varies considerably, from as early as age 1 yr (8,43) up to age 86 yr (11). TBMN, which does not progress, has been documented for up to 30 yr (17).…”

“…The connection between recurrent benign hematuria and thin GBM was first noted in electron microscopic analysis of kidney specimens in 1973 (11). This typical histopathologic feature of TBMN, i.e., uniform thinning of the GBM, could be found also at the early stages of Alport syndrome, which suggested that the pathomechanisms of the two diseases might overlap.…”

“…TBMN was first described approximately 80 yr ago as a curable form of hemorrhagic nephritis (4). Later, many cases of this microscopic, painless hematuria with good prognosis were shown to be inherited, and this fact is emphasized in the numerous names used for the disease in the literature, such as "congenital hereditary hematuria" (5), "hereditary hematuria" (6), "familial hematuric nephritis" (7), "familial benign hematuria" (8), "benign familial hematuria" (9,10), "familial benign essential hematuria" (11,12), "benign hereditary nephritis" (13), and "benign essential hematuria" (14). TBMN has also been referred to as familial hematuria (15), but that is a misnomer, as it does not distinguish it from the progressive Alport syndrome (3).…”