Zusammenfassung
Das Kapitel behandelt die primären Glomerulopathien mit ihren meist monogenen Ursachen sowie die glomerulären Läsionsmuster bei syndromalen Erkrankungen. Es werden neueste genetische Erkenntnisse beleuchtet, wobei sowohl monogene als auch komplexe Mutationen in Korrelation zum Phänotyp der Nierenerkrankung gestellt werden. Da diese Befunde zunehmend zur Reklassifizierung der genetischen Glomerulopathien führen, wird bereits auf die neuesten Klassifikationen eingegangen. Für die diagnostische Praxis stehen exemplarisches Bildmaterial und differentialdiagnostische Tabellen zur Verfügung.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Similar content being viewed by others
Literatur
Alport AC (1927) Hereditary familial congenital haemorrhagic nephritis. Br Med J 1:504–506
Armstead SI, Hellmark T, Wieslander J, Zhou XJ, Saxena R, Rajora NA (2013) Case of Alport syndrome with posttransplant antiglomerular basement membrane disease despite negative antiglomerular basement membrane antibodies by EIA treated with plasmapheresis and intravenous immunoglobulin. Case Rep Transplant 2013:164016
Arrondel C, Vodovar N, Knebelmann B, Grünfeld JP, Gubler MC, Antignac C, Heidet L (2002) Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes. J Am Soc Nephrol 13:65–74
Aylsworth AS, Thomas GH, Hood JL, Malouf N, Libert J (1980) A severe infantile sialidosis: clinical, biochemical, and microscopic features. J Pediatr 96:662–668
Barker DF, Hostikka SL, Zhou J, Chow LT, Oliphant AR, Gerken SC, Gregory MC, Skolnick MH, Atkin CL, Tryggvason K (1990) Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 248(4960):1224–1227
Bennett WM, Musgrave JE, Campbell RA, Elliot D, Cox R, Brooks RE, Lovrien EW, Beals RK, Porter GA (1973) The nephropathy of the nail-patella syndrome. Clinicopathologic analysis of 11 kindred. Am J Med 54:304–319
Benson MD (2005) Ostertag revisited: the inherited systemic amyloidoses without neuropathy. Amyloid 12:75–87
Berkovic SF, Dibbens LM, Oshlack A et al (2008) Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. Am J Hum Genet 82:673–684
Boerkoel CF, O’Neill S, Andre JL et al (2000) Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature. Eur J Pediatr 159:1–7
Boutaud A, Borza DB, Bondar O, Gunwar S, Netzer KO, Singh N, Ninomiya Y, Sado Y, Noelken ME, Hudson BG (2000) Type IV collagen of the glomerular basement membrane. Evidence that the chain specificity of network assembly is encoded by the noncollagenous NC1 domains. J Biol Chem 275:30716–30724
Boyer O, Benoit G, Gribouval O et al (2011) Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis. J Am Soc Nephrol 22:239–245
Calabresi L, Simonelli S, Gomaraschi M, Franceschini G (2012) Genetic lecithin:cholesterol acyltransferase deficiency and cardiovascular disease. Atherosclerosis 222:299–306
Caridi G, Perfumo F, Ghiggeri GM (2005) (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms. Pediatr Res NPHS2(57):54R–61R
Castelletti F, Donadelli R, Banterla F et al (2008) Mutations in FN1 cause glomerulopathy with fibronectin deposits. Proc Natl Acad Sci USA 105:2538–2543
D’Agati VD (2012) Pathobiology of focal segmental glomerulosclerosis: new developments. Curr Opin Nephrol Hypertens 21:243–250
Dember LM (2006) Amyloidosis-associated kidney disease. J Am Soc Nephrol 17:3458–3471
Dietrich A, Matejas V, Bitzan M et al (2008) Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome. Pediatr Nephrol 23:1779–1786
Dong F, Li S, Pujol-Moix N et al (2005) Genotype-phenotype correlation in MYH9-related thrombocytopenia. Br J Haematol 130:620–627
Dragon-Durey MA, Fremeaux-Bacchi V, Loirat C et al (2004) Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases. J Am Soc Nephrol 15:787–795
Eddy AA, Symons JM (2003) Nephrotic syndrome in childhood. Lancet 362:629–639
Foster K, Markowitz GS, D’Agati VD (2005) Pathology of thin basement membrane nephropathy. Semin Nephrol 25:149–158
Freedman BI, Kopp JB, Langefeld CD et al (2010) The apolipoprotein L1 (APOL1) gene and nondiabetic nephropathy in African Americans. J Am Soc Nephrol 21:1422–1426
Gbadegesin R, Hinkes BG, Hoskins BE et al (2008) Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS). Nephrol Dial Transplant 23:1291–1297
Gbadegesin R, Lavin P, Janssens L et al (2010) A new locus for familial FSGS on chromosome 2p. J Am Soc Nephrol 21:1390–1397
Gjone E (1981) Familial lecithin:cholesterol acyltransferase deficiency – a new metabolic disease with renal involvement. Adv Nephrol Necker Hosp 10:167–185
Haas M, Meehan SM, Karrison TG, Spargo BH (1997) Changing etiologies of unexplained adult nephrotic syndrome: a comparison of renal biopsy findings from 1976–1979 and 1995–1997. Am J Kidney Dis 30:621–631
Habib R, Gubler MC, Antignac C, Gagnadoux MF (1993) Diffuse mesangial sclerosis: a congenital glomerulopathy with nephrotic syndrome. Adv Nephrol Necker Hosp 22:43–57
Habib R, Loirat C, Gubler MC, Niaudet P, Bensman A, Levy M, Broyer M (1985) The nephropathy associated with male pseudohermaphroditism and Wilms’ tumor (Drash syndrome): a distinctive glomerular lesion – report of 10 cases. Clin Nephrol 24:269–278
Has C, Sparta G, Kiritsi D et al (2012) Integrin alpha3 mutations with kidney, lung, and skin disease. N Engl J Med 366:1508–1514
Hasselbacher K, Wiggins RC, Matejas V et al (2006) Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. Kidney Int 70:1008–1012
Hastie ND (1992) Dominant negative mutations in the Wilms tumour (WT1) gene cause Denys-Drash syndrome – proof that a tumour-suppressor gene plays a crucial role in normal genitourinary development. Hum Mol Genet 1:293–295
Heeringa SF, Chernin G, Chaki M et al (2011) COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. J Clin Invest 121:2013–2024
Hinkes BG, Mucha B, Vlangos CN, Gbadegesin R, Liu J, Hasselbacher K, Hangan D, Ozaltin F, Zenker M, Hildebrandt F (2007) Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). Pediatrics 119:e907–919
Hopfer DH, Mihatsch MJ (2010) Hereditäre Nephropathien. Nephrologe 5:508–516
Huttunen NP, Rapola J, Vilska J, Hallman N (1980) Renal pathology in congenital nephrotic syndrome of Finnish type: a quantitative light microscopic study on 50 patients. Int J Pediatr Nephrol 1:10–16
Imbasciati E, Paties C, Scarpioni L, Mihatsch MJ (1986) Renal lesions in familial lecithin-cholesterol acyltransferase deficiency. Ultrastructural heterogeneity of glomerular changes. Am J Nephrol 6:66–70
Ivanyi B, Pap R, Ondrik Z (2006) Thin basement membrane nephropathy: diffuse and segmental types. Arch Pathol Lab Med 130:1533–1537
Jais JP, Knebelmann B, Giatras I et al (2000) X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males. J Am Soc Nephrol 11:649–657
Jais JP, Knebelmann B, Giatras I et al (2003) X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a ″European Community Alport Syndrome Concerted Action″ study. J Am Soc Nephrol 14:2603–2610
Jalanko H (2009) Congenital nephrotic syndrome. Pediatr Nephrol 24:2121–2128
Jefferson JA, Lemmink HH, Hughes AE, Hill CM, Smeets HJ, Doherty CC, Maxwell AP (1997) Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4). Nephrol Dial Transplant 12:1595–1599
Karamatic Crew V, Burton N, Kagan A et al (2004) CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin. Blood 104:2217–2223
Kestilä M, Lenkkeri U, Männikkö M et al (1998) Positionally cloned gene for a novel glomerular protein – nephrin – is mutated in congenital nephrotic syndrome. Mol Cell 1:575–582
Kopp JB, Smith MW, Nelson GW et al (2008) MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis. Nat Genet 40:1175–1184
Kuivenhoven JA, Pritchard H, Hill J, Frohlich J, Assmann G, Kastelein J (1997) The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes. J Lipid Res 38:191–205
Kuusniemi A-M, Qvist E, Sun Y, Patrakka J, Rönnholm K, Karikoski R, Jalanko H (2007) Plasma exchange and retransplantation in recurrent nephrosis of patients with congenital nephrotic syndrome of the Finnish type (NPHS1). Transplantation 83:1316–1323
Kuusniemi AM, Merenmies J, Lahdenkari AT et al (2006) Glomerular sclerosis in kidneys with congenital nephrotic syndrome (NPHS1). Kidney Int 70:1423–1431
Lemaire M, Fremeaux-Bacchi V, Schaefer F et al (2013) Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nat Genet 45:531–536
Lemley KV (2009) Kidney disease in nail-patella syndrome. Pediatr Nephrol 24:2345–2354
Liapis H, Gökden N, Hmiel P, Miner JH (2002) Histopathology, ultrastructure, and clinical phenotypes in thin glomerular basement membrane disease variants. Hum Pathol 33:836–845
Lobato L, Rocha A (2012) Transthyretin amyloidosis and the kidney. Clin J Am Soc Nephrol 7:1337–1346
Matejas V, Hinkes B, Alkandari F et al (2010) Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum. Hum Mutat 31:992–1002
Mazzucco G, Barsotti P, Muda AO, Fortunato M, Mihatsch M, Torri-Tarelli L, Renieri A, Faraggiana T, De Marchi M, Monga G (1998) Ultrastructural and immunohistochemical findings in Alport’s syndrome: a study of 108 patients from 97 Italian families with particular emphasis on COL4A5 gene mutation correlations. J Am Soc Nephrol 9:1023–1031
Meleg-Smith S, Magliato S, Cheles M, Garola RE, Kashtan CE (1998) X-linked Alport syndrome in females. Hum Pathol 29:404–408
Meloni I, Vitelli F, Pucci L et al (2002) Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR). J Med Genet 39:359–365
Merchant SN, Burgess BJ, Adams JC et al (2004) Temporal bone histopathology in alport syndrome. Laryngoscope 114:1609–1618
Miner JH, Patton BL (1999) Laminin-11. Int J Biochem Cell Biol 31:811–816
Mochizuki T, Lemmink HH, Mariyama M, Antignac C, Gubler MC, Pirson Y, Verellen-Dumoulin C, Chan B, Schröder CH, Smeets HJ (1994) Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome. Nat Genet 8:77–81
Moeller MJ (2007) Dynamics at the slit diaphragm – is nephrin actin’? Nephrol Dial Transplant 22:37–39
Morrison AA, Viney RL, Saleem MA, Ladomery MR (2008) New insights into the function of the Wilms tumor suppressor gene WT1 in podocytes. Am J Physiol Renal Physiol 295:F12–17
Niaudet P, Gubler MC (2006) WT1 and glomerular diseases. Pediatr Nephrol 21:1653–1660
Noone D, Licht C (2013) An update on the pathomechanisms and future therapies of Alport syndrome. Pediatr Nephrol 2013 28:1025–1036
Noris M, Remuzzi G (2009) Atypical hemolytic-uremic syndrome. N Engl J Med 361:1676–1687
Nso Roca AP, Peña Carrión A, Gutiérrez BM, García Meseguer C, García Pose A, Navarro M (2009) Evolutive study of children with diffuse mesangial sclerosis. Pediatr Nephrol 24:1013–1019
Ozaltin F, Ibsirlioglu T, Taskiran EZ et al (2011) Disruption of PTPRO causes childhood-onset nephrotic syndrome. Am J Hum Genet 89:139–147
Ozaltin F, Li B, Rauhauser A et al (2013) DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN. J Am Soc Nephrol 24:377–384
Patrakka J, Tryggvason K (2007) Nephrin – a unique structural and signaling protein of the kidney filter. Trends Mol Med 13:396–403
Piscione TD, Licht C (2011) Genetics of proteinuria: an overview of gene mutations associated with nonsyndromic proteinuric glomerulopathies. Adv Chronic Kidney Dis 18:273–289
Rana K, Wang YY, Buzza M, Tonna S, Zhang KW, Lin T, Sin L, Padavarat S, Savige J (2005) The genetics of thin basement membrane nephropathy. Semin Nephrol 25:163–170
Reiser J, Polu KR, Moller CC et al (2005) TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function. Nat Genet 37:739–744
Santin S, Garcia-Maset R, Ruiz P et al (2009) Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis. Kidney Int 76:1268–1276
Savoia A, Balduini CL (1993) MYH9-Related Disorders. In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K (Hrsg) GeneReviews®. University of Washington, Seattle, Seattle (WA), S 1993–2014
Sethi S, Fervenza FC (2012) Membranoproliferative glomerulonephritis – a new look at an old entity. N Engl J Med 366:1119–1131
Sinha MD, Horsfield C, Komaromy D, Booth CJ, Champion MP (2009) Congenital disorders of glycosylation: a rare cause of nephrotic syndrome. Nephrol Dial Transplant 24:2591–2594
Spear GS, Slusser RJ (1972) Alport’s syndrome. Emphasizing electron microscopic studies of the glomerulus. Am J Pathol 69:213–224
Spear GS (1990) Morphologic alterations and biochemical studies of the glomerular basement membrane in Alport syndrome. Contrib Nephrol 80:41–46
Taguchi T, Takebayashi S, Nishimura M, Tsuru N (1988) Nephropathy of nail-patella syndrome. Ultrastruct Pathol 12:175–183
Taylor CM, Chua C, Howie AJ, Risdon RA (2004) Clinico-pathological findings in diarrhoea-negative haemolytic uraemic syndrome. Pediatr Nephrol 19:419–425
Wartiovaara J, Ofverstedt LG, Khoshnoodi J et al (2004) Nephrin strands contribute to a porous slit diaphragm scaffold as revealed by electron tomography. J Clin Invest 114:1475–1483
Welsh GI, Saleem MA (2010) Nephrin-signature molecule of the glomerular podocyte? J Pathol 220:328–337
Witzgall R (2008) How are podocytes affected in nail-patella syndrome? Pediatr Nephrol 23:1017–1020
Zenker M, Machuca E, Antignac C (2009) Genetics of nephrotic syndrome: new insights into molecules acting at the glomerular filtration barrier. J Mol Med (Berl) 87:849–857
Zhou J, Mochizuki T, Smeets H et al (1993) Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors. Science 261:1167–1169
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2016 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Zenker, M., Amann, K., Kain, R., Hopfer, H. (2016). Hereditäre und genetisch bedingte Glomerulopathien. In: Amann, K., Kain, R., Klöppel, G. (eds) Pathologie. Pathologie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-04566-0_8
Download citation
DOI: https://doi.org/10.1007/978-3-642-04566-0_8
Published:
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-642-04565-3
Online ISBN: 978-3-642-04566-0
eBook Packages: Medicine (German Language)