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| ==Diagnosis== | | ==Diagnosis== |
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| [[Thin basement membrane disease history and symptoms|History and Symptoms]] | [[Thin basement membrane disease physical examination|Physical Examination]] | [[Thin basement membrane disease laboratory findings|Laboratory Findings]] | [[Thin basement membrane disease CT|CT]] | [[Thin basement membrane disease MRI|MRI]] | [[Thin basement membrane disease ultrasound|Ultrasound]] | [[Thin basement membrane disease other imaging findings|Other Imaging Findings]] | [[Thin basement membrane disease other diagnostic studies|Other Diagnostic Studies]] | | [[Thin basement membrane disease history and symptoms|History and Symptoms]] | [[Thin basement membrane disease physical examination|Physical Examination]] | [[Thin basement membrane disease biopsy|Biopsy]] | [[Thin basement membrane disease other diagnostic studies|Other Diagnostic Studies]] |
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| ==Treatment== | | ==Treatment== |
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| [[Thin basement membrane disease case study one|Case #1]] | | [[Thin basement membrane disease case study one|Case #1]] |
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| '''Thin basement membrane disease''' (TBMD, also known as ''benign familial hematuria'' and ''thin basement membrane nephropathy'') is, along with [[IgA nephropathy]], the most common cause of asymptomatic [[hematuria]]. The only abnormal finding in this disease is a thinning of the [[basement membrane]] of the [[glomerulus|glomeruli]] in the kidneys. Its importance lies in the fact that it has a benign [[prognosis]], with patients maintaining a normal [[kidney function]] throughout their lives.
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| == Signs and symptoms ==
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| Most patients with thin basement membrane disease are incidentally discovered to have [[microscopic hematuria]] on [[urinalysis]]. The [[blood pressure]], [[kidney function]] and the urinary protein excretion are usually normal. Mild [[proteinuria]] (less than 1.5 g/day) and [[hypertension]] are seen in a small minority of patients. Frank [[hematuria]] and loin pain should prompt a search for another cause, such as [[kidney stone]]s or [[loin pain-hematuria syndrome]]. Also, there are no systemic manifestations, so presence of [[hearing impairment]] or [[visual impairment]] should prompt a search for [[hereditary]] nephritis such as [[Alport syndrome]].
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| == Diagnosis ==
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| Thin basement membrane disease has to be differentiated from the other two common causes of isolated [[glomerulus|glomerular]] [[hematuria]], [[IgA nephropathy]] and [[Alport syndrome]]. The history and presentation are helpful in this regard:
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| *There is usually a family history of [[kidney failure]], which may be associated with [[hearing impairment]] in [[Alport syndrome]]. Also, more males tend to be affected since it is more often [[X-linked]].
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| *In [[IgA nephropathy]], episodes of frank [[hematuria]] are more common, and a family history is rare.
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| A [[needle aspiration biopsy|kidney biopsy]] is the only way to diagnose thin basement membrane disease. It reveals thinning of the [[glomerular basement membrane]] from the normal 300 to 400 nanometers (nm) to 150 to 250 nm. However, a [[needle aspiration biopsy|biopsy]] is rarely done in cases where the patient has isolated [[microscopic hematuria]], normal [[kidney function]] and no [[proteinuria]]. The prognosis is excellent in this setting unless the clinical manifestations progress, as occurs in all males and some females with [[Alport syndrome]] and many patients with [[IgA nephropathy]].
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| == Genetics ==
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| The molecular basis for thin basement membrane disease has yet to be elucidated fully; however, defects in the gene encoding the a4 chain of type IV collagen have been reported in some families.
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| Some individuals with TBMD are thought to be carries for genes that cause [[Alport syndrome]].{{ref|Buzza}}
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| == Treatment ==
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| Most patients with thin basement membrane disease need just reassurance. [[Angiotensin converting enzyme inhibitor]]s have been suggested to reduce the episodes of [[hematuria]], though controlled studies are lacking. Treating co-existing [[hypercalciuria]] and [[hyperuricosuria]] will also be helpful in reducing [[hematuria]].
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| The molecular basis for thin basement membrane disease has yet to be elucidated fully; however, defects in the gene encoding the a4 chain of type IV collagen have been reported in some families.
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| == Prognosis ==
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| Overall, most people with thin basement membrane disease have an excellent [[prognosis]]. Some reports, however, suggest that a minority might develop [[hypertension]].{{ref|Nieuwhof}} The high incidence of thin basement disease also means that it may be co-existing with other kidney diseases, such as [[diabetic nephropathy]], which may have a not-so-benign prognosis.
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| == References ==
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| #{{note|Buzza}}Buzza M, Wang Y, Dagher H, Babon J, Cotton R, Powell H, Dowling J, Savige J. COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome. Kidney International (2001) 60, 480–483. PMID 11473630
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| #{{note|Nieuwhof}}Nieuwhof, CM, de Heer, F, de Leeuw, P, van Breda Vriesman, PJ. Thin GBM nephropathy. Premature glomerular obsolescence is associated with hypertension and late onset renal failure. Kidney Int 1997;51:1596. PMID 9150478
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| [[Category:Kidney diseases]] | | [[Category:Kidney diseases]] |
| | [[Category:Nephrology]] |
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| {{WH}} | | {{WH}} |
| {{WikiDoc Sources}} | | {{WikiDoc Sources}} |