IllnessHämaturie, familiäre, Differentialdiagnose

NGS +

The etiology of microscopic hematuria remains unknown in more than two thirds of cases: About 15% are caused by stone disease, more than 2% by infection, and less than 1% represent hereditary glomerular kidney disease. This familial hematuria represents a group of diseases of the glomerular capillaries clinically characterized by onset in childhood as in Alport syndrome and thin basement membrane nephropathy. In addition, inherited nephrotic syndromes, glomerulosclerosis and other etiologies are possible. Mild forms of familial hematuria include Epstein/Fechtner/May-Hegglin/Sebastian syndromes, which result from mutations in myosin heavy chain IIA. Furthermore, hematuria can also be a sign of completely different categories of hereditary diseases, including polycystic kidney disease and hypercalciuria, in which the main symptomatology is mostly more typical. According to the quite different causes, all monogenic inheritance patterns are observed in familial hematuria. The diagnostic yield by molecular genetics is not known. Therefore, a negative DNA test result does not exclude a genetic cause of the disease either.

Reference: DOI: 10.1016/j.medici.2017.01.002

• Allelic: Charcot-Marie-Tooth disease, dominant intermediate E (INF2)
• Allelic: Deafness, AD 17 (MYH9)
• Alport syndrome 1, XL (COL4A5)
• Alport syndrome 2, AR (COL4A3, COL4A4)
• Alport syndrome 3, AD (COL4A3)
• Glomerulosclerosis, focal segmental, 5 (INF2)
• Hematuria, benign familial (COL4A3, COL4A4)
• Macrothrombocytopenia + granulocyte inclus. with/-out nephritis or sensorineural hearing loss (MYH9)
• Nephropathy due to CFHR5 deficiency (CFHR5)
• Nephrotic syndrome, type 1 (NPHS1)
• Nephrotic syndrome, type 2 (NPHS2)
• Tubulointerstitial kidney disease, Ad, 1 (UMOD)