Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Thin basement membrane nephropathy

Thin basement membrane nephropathy is an autosomal dominant disorder caused by heterozygous Alport-specific mutations. The haploinsufficiency of collagen 4 genes is responsible for the development of a thin basement membrane and erythrocyturia.

Differentials

When sensorineural deafness and Alport-typical ocular abnormalities develop the disease is called Alport syndrome.

Management

Therapy

It is recommended to control those patients on a regular basis and to commence ACE inhibitor therapy as soon as proteinuria exceeds 300mg/d or other renal risk factors develop.

Couseling

Heterozygous carriers should be aware of the risk af a child with full blown Alport syndrome if mating with an other carrier, Female carriers of an x-linked Alport mutation have a 50% risk of an affected boy.

Systematic

Glomerular basement membrane disorders
Alport Syndrome
HANAC syndrome
Leiomyomatosis with Alport syndrome, Smooth muscle tumors and Alport syndrome
MYH9 related disorders
Nail-patella syndrome
Nephropathy with pretibial epidermolysis bullosa and deafness
PXDN
Thin basement membrane nephropathy
COL4A3
COL4A4
COL4A5

References:

1.

REYERSBACH GC et al. (1954) Congenital hereditary hematuria.

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2.

Yoshikawa N et al. (1982) Familial hematuria; clinico-pathological correlations.

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3.

Hudson BG et al. (2003) Alport's syndrome, Goodpasture's syndrome, and type IV collagen.

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4.

Badenas C et al. (2002) Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria.

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5.

LIVADITIS A et al. (1962) Essential hematuria in children--prognostic aspects.

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6.

AYOUB EM et al. (1965) BENIGN RECURRENT HEMATURIA.

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7.

Tiebosch AT et al. (1989) Thin-basement-membrane nephropathy in adults with persistent hematuria.

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8.

Yoshikawa N et al. (1988) Benign familial hematuria.

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9.

Dische FE et al. (1985) Abnormally thin glomerular basement membranes associated with hematuria, proteinuria or renal failure in adults.

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10.

Rogers PW et al. (1973) Familial benign essential hematuria.

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11.

McConville JM et al. (1966) Familial and nonfamilal benign hematuria.

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12.

Piel CF et al. (1982) Glomerular basement membrane attenuation in familial nephritis and "benign" hematuria.

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13.

Lemmink HH et al. (1996) Benign familial hematuria due to mutation of the type IV collagen alpha4 gene.

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14.

Wikipedia article

Wikipedia EN (Thin_basement_membrane_disease) [^]
Update: April 29, 2019