Hereditary proteinuria syndromes and mechanisms of proteinuria.

This review summarizes recent advances in our knowledge of the glomerular filter and the causes of hereditary proteinuria syndromes.

[1]  M. Pericak-Vance,et al.  Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity. , 1999, Genomics.

[2]  James M. Anderson,et al.  The tight junction protein ZO-1 is concentrated along slit diaphragms of the glomerular epithelium , 1990, The Journal of cell biology.

[3]  O. Gribouval,et al.  NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence. , 2004, Kidney international.

[4]  M. Skolnick,et al.  Identification of mutations in the COL4A5 collagen gene in Alport syndrome. , 1990, Science.

[5]  D. Kerjaschki,et al.  Nephrin and Neph1 Co-localize at the Podocyte Foot Process Intercellular Junction and Form cis Hetero-oligomers* , 2003, Journal of Biological Chemistry.

[6]  Corinne Antignac,et al.  NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome , 2000, Nature Genetics.

[7]  R. Ramirez-Solis,et al.  Proteinuria and Perinatal Lethality in Mice Lacking NEPH1, a Novel Protein with Homology to NEPHRIN , 2001, Molecular and Cellular Biology.

[8]  M. Kretzler,et al.  The glomerular slit diaphragm is a modified adherens junction. , 2000, Journal of the American Society of Nephrology : JASN.

[9]  M. Pericak-Vance,et al.  A Mutation in the TRPC6 Cation Channel Causes Familial Focal Segmental Glomerulosclerosis , 2005, Science.

[10]  S. Rennard,et al.  Isolation of a heparan sulfate-containing proteoglycan from basement membrane. , 1980, Proceedings of the National Academy of Sciences of the United States of America.

[11]  R. Gerszten,et al.  Mice deficient in α-actinin-4 have severe glomerular disease , 2003 .

[12]  J. Lamerdin,et al.  Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations. , 1999, American journal of human genetics.

[13]  H. Holthöfer,et al.  Filtrin is a novel member of nephrin-like proteins. , 2003, Biochemical and biophysical research communications.

[14]  K. Tryggvason,et al.  Clustering-induced tyrosine phosphorylation of nephrin by Src family kinases. , 2003, Kidney international.

[15]  H. van den Berghe,et al.  [Association of an anatomo-pathological syndrome of male pseudohermaphroditism, Wilms' tumor, parenchymatous nephropathy and XX/XY mosaicism]. , 1967, Archives francaises de pediatrie.

[16]  A. Baldini,et al.  Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome , 1998, Nature Genetics.

[17]  N. Kashihara,et al.  Current status of the structural and functional basis of glomerular filtration and proteinuria. , 1991, Seminars in nephrology.

[18]  Michael Loran Dustin,et al.  Congenital Nephrotic Syndrome in Mice Lacking CD 2-Associated Protein , 1999 .

[19]  P. G. Allen,et al.  α-Actinin-4-Mediated FSGS: An Inherited Kidney Disease Caused by an Aggregated and Rapidly Degraded Cytoskeletal Protein , 2004, PLoS biology.

[20]  K. Tryggvason,et al.  Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome , 2001, Human mutation.

[21]  D. Clapham,et al.  TRPC 6 is a glomerular slit diaphragm-associated channel required for normal renal function , 2005 .

[22]  P. Avasthi,et al.  Glomerular endothelial glycocalyx. , 1988, Contributions to nephrology.

[23]  M. Farquhar,et al.  Distribution of anionic sites in glomerular basement membranes: Their possible role in filtration and attachment , 2022 .

[24]  K. Sigmundsson,et al.  Nephrin promotes cell-cell adhesion through homophilic interactions. , 2003, The American journal of pathology.

[25]  H. D. Mosier,et al.  GONADOBLASTOMA ASSOCIATED WITH PURE GONADAL DYSGENESIS IN MONOZYGOUS TWINS. , 1964, The Journal of pediatrics.

[26]  T. Benzing,et al.  Homodimerization and heterodimerization of the glomerular podocyte proteins nephrin and NEPH1. , 2003, Journal of the American Society of Nephrology : JASN.

[27]  R. Salonen,et al.  Proteinuria and prenatal diagnosis of congenital nephrosis in fetal carriers of nephrin gene mutations , 2002, The Lancet.

[28]  B. Duling,et al.  Permeation of the luminal capillary glycocalyx is determined by hyaluronan. , 1999, The American journal of physiology.

[29]  K. Tryggvason,et al.  Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients. , 2000, Kidney international.

[30]  J. Dötsch,et al.  Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: An autosomal recessive syndrome , 2004, American journal of medical genetics. Part A.

[31]  B. Schermer,et al.  The Carboxyl Terminus of Neph Family Members Binds to the PDZ Domain Protein Zonula Occludens-1* , 2003, The Journal of Biological Chemistry.

[32]  P. Lichter,et al.  Erratum: Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome (Human Molecular Genetics (1998) 7 (1091-1098)) , 1998 .

[33]  R. Gerszten,et al.  Mice deficient in alpha-actinin-4 have severe glomerular disease. , 2003, The Journal of clinical investigation.

[34]  M. Pierson,et al.  [AN UNUSUAL CONGENITAL AND FAMILIAL CONGENITAL MALFORMATIVE COMBINATION INVOLVING THE EYE AND KIDNEY]. , 1963, Journal de genetique humaine.

[35]  F. Hildebrandt,et al.  Novel Mutations in NPHS 2 Detected in Both Familial and Sporadic Steroid-Resistant Nephrotic Syndrome , 2002 .

[36]  B. Olsen,et al.  Heparan sulfate chains of perlecan are indispensable in the lens capsule but not in the kidney , 2003, The EMBO journal.

[37]  S. Furuta,et al.  Three-dimensional study of glomerular slit diaphragm by the quick-freezing and deep-etching replica method. , 1990, European journal of cell biology.

[38]  B. Vanderhyden,et al.  Focal and Segmental Glomerulosclerosis in Mice with Podocyte-Specific Expression of Mutant α-Actinin-4 , 2003 .

[39]  L. Hjelt,et al.  Nephrotic syndrome in newborn and young infants. , 1956, Annales paediatriae Fenniae.

[40]  Randy L. Johnson,et al.  The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes. , 2002, The Journal of clinical investigation.

[41]  M. Saleem,et al.  Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin. , 2001, The Journal of clinical investigation.

[42]  P. Lichter,et al.  Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome. , 1998, Human molecular genetics.

[43]  J. Seidman,et al.  A locus for inherited focal segmental glomerulosclerosis maps to chromosome 19q13. , 1998, Kidney international.

[44]  O. Gribouval,et al.  Podocin localizes in the kidney to the slit diaphragm area. , 2002, The American journal of pathology.

[45]  J. Rapola,et al.  Glomerular basement membrane antigens in congenital and acquired nephrotic syndrome in childhood. , 1976, Nephron.

[46]  J. Kaplan,et al.  Mutations in ACTN 4 , encoding α-actinin-4 , cause familial focal segmental glomerulosclerosis , 2000 .

[47]  M. Pericak-Vance,et al.  A Mutation in the TRPC 6 Cation Channel Causes Familial Focal Segmental Glomerulosclerosis , 2008 .

[48]  Patricia L. Widder,et al.  A Novel Adaptor Protein Orchestrates Receptor Patterning and Cytoskeletal Polarity in T-Cell Contacts , 1998, Cell.

[49]  C. Antignac,et al.  Transcriptional induction of slit diaphragm genes by Lmx1b is required in podocyte differentiation. , 2002, The Journal of clinical investigation.

[50]  B. Haraldsson,et al.  Why do we not all have proteinuria? An update of our current understanding of the glomerular barrier. , 2004, News in physiological sciences : an international journal of physiology produced jointly by the International Union of Physiological Sciences and the American Physiological Society.

[51]  L Peltonen,et al.  Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome. , 1998, Molecular cell.

[52]  M. Farquhar,et al.  Nephrin forms a complex with adherens junction proteins and CASK in podocytes and in Madin-Darby canine kidney cells expressing nephrin. , 2004, The American journal of pathology.

[53]  T. Benzing,et al.  Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains. , 2003, Human molecular genetics.

[54]  D. Kerjaschki,et al.  Nephrin localizes at the podocyte filtration slit area and is characteristically spliced in the human kidney. , 1999, American Journal of Pathology.

[55]  J. Kaplan,et al.  Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis , 2000, Nature Genetics.

[56]  Marc Fellous,et al.  Donor splice-site mutations in WT1 are responsible for Frasier syndrome , 1997, Nature Genetics.

[57]  K. Tryggvason,et al.  The murine nephrin gene is specifically expressed in kidney, brain and pancreas: inactivation of the gene leads to massive proteinuria and neonatal death. , 2001, Human molecular genetics.

[58]  J. Sanes,et al.  The renal glomerulus of mice lacking s-laminin/laminin beta 2: nephrosis despite molecular compensation by laminin beta 1. , 1995, Nature genetics.

[59]  L. Holzman,et al.  Fyn Binds to and Phosphorylates the Kidney Slit Diaphragm Component Nephrin* , 2003, Journal of Biological Chemistry.

[60]  H. Zentgraf,et al.  NEPH2 is located at the glomerular slit diaphragm, interacts with nephrin and is cleaved from podocytes by metalloproteinases. , 2005, Journal of the American Society of Nephrology : JASN.

[61]  P. Lichter,et al.  Loss-of-function mutations in the LIM-homeodomain gene , LMX 1 B , in nail – patella syndrome , 1998 .

[62]  K. Tryggvason,et al.  Nephrin is specifically located at the slit diaphragm of glomerular podocytes. , 1999, Proceedings of the National Academy of Sciences of the United States of America.

[63]  Y. Hata,et al.  MAGI-1 is a component of the glomerular slit diaphragm that is tightly associated with nephrin , 2005, Laboratory Investigation.

[64]  P. Scambler,et al.  Evidence for the genetic heterogeneity of nephropathic phenotypes associated with Denys-Drash and Frasier syndromes. , 1999, American journal of human genetics.

[65]  I. Kaitila,et al.  Mutation analysis of LMX1B gene in nail-patella syndrome patients. , 1998, American journal of human genetics.

[66]  R. Cotran,et al.  Role of molecular charge in glomerular permeability. Tracer studies with cationized ferritins , 1975, The Journal of cell biology.

[67]  Eiji Higashihara,et al.  Disease-causing missense mutations in NPHS2 gene alter normal nephrin trafficking to the plasma membrane. , 2004, Kidney international.

[68]  T. Benzing,et al.  Interaction with Podocin Facilitates Nephrin Signaling* , 2001, The Journal of Biological Chemistry.

[69]  E. Unanue,et al.  CD2-Associated Protein Haploinsufficiency Is Linked to Glomerular Disease Susceptibility , 2003, Science.

[70]  K. Lounatmaa,et al.  Podocytes are firmly attached to glomerular basement membrane in kidneys with heavy proteinuria. , 2004, Journal of the American Society of Nephrology : JASN.

[71]  P. Scambler,et al.  Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. , 2002, Human molecular genetics.

[72]  A. Drash,et al.  A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension, and degenerative renal disease. , 1970, The Journal of pediatrics.

[73]  F. Scolari,et al.  Podocin mutations in sporadic focal-segmental glomerulosclerosis occurring in adulthood. , 2003, Kidney international.

[74]  M. Farquhar,et al.  Anionic sites in the glomerular basement membrane. In vivo and in vitro localization to the laminae rarae by cationic probes , 1979, The Journal of cell biology.

[75]  K. Tryggvason,et al.  Heparan sulfate of perlecan is involved in glomerular filtration. , 2005, Journal of the American Society of Nephrology : JASN.

[76]  Michael Loran Dustin,et al.  Congenital nephrotic syndrome in mice lacking CD2-associated protein. , 1999, Science.

[77]  M. Kretzler,et al.  Early Glomerular Filtration Defect and Severe Renal Disease in Podocin-Deficient Mice , 2004, Molecular and Cellular Biology.

[78]  F. Hildebrandt,et al.  Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. , 2002, Journal of the American Society of Nephrology : JASN.

[79]  H. Jalanko,et al.  Management of congenital nephrotic syndrome of the Finnish type , 1995, Pediatric Nephrology.

[80]  平林 享.  JAM4, a junctional cell adhesion molecule interacting with a tight junction protein, MAGI-1 , 2004 .

[81]  Y. Frishberg,et al.  Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children. , 2002, Journal of the American Society of Nephrology : JASN.

[82]  K. Tryggvason,et al.  Type IV collagen: structure, gene organization, and role in human diseases. Molecular basis of Goodpasture and Alport syndromes and diffuse leiomyomatosis. , 1993, The Journal of biological chemistry.

[83]  J. Krieger,et al.  NPHS2 R229Q functional variant is associated with microalbuminuria in the general population. , 2004, Kidney international.

[84]  Fanny Marhuenda,et al.  CONTACTS , 1967 .

[85]  P. S. St. John,et al.  Nephrin localizes to the slit pore of the glomerular epithelial cell. , 1999, Kidney international.

[86]  K. Tryggvason,et al.  Alport's syndrome, Goodpasture's syndrome, and type IV collagen. , 2003, The New England journal of medicine.

[87]  Eetu Mäkelä,et al.  Nephrin strands contribute to a porous slit diaphragm scaffold as revealed by electron tomography. , 2004, The Journal of clinical investigation.

[88]  S. Quaggin,et al.  The role of VEGF-A in glomerular development and function , 2004, Current opinion in nephrology and hypertension.

[89]  M. Karnovsky,et al.  POROUS SUBSTRUCTURE OF THE GLOMERULAR SLIT DIAPHRAGM IN THE RAT AND MOUSE , 1974, The Journal of cell biology.

[90]  A. Shaw,et al.  A Novel Role for the Adaptor Molecule CD2-associated Protein in Transforming Growth Factor-β-induced Apoptosis* , 2004, Journal of Biological Chemistry.

[91]  M. Farquhar,et al.  Increased permeability of the glomerular basement membrane to ferritin after removal of glycosaminoglycans (heparan sulfate) by enzyme digestion , 1980, The Journal of cell biology.

[92]  D. Housman,et al.  An internal deletion within an 11p13 zinc finger gene contributes to the development of Wilms' tumor , 1990, Cell.

[93]  K. Tryggvason,et al.  Unraveling the mechanisms of glomerular ultrafiltration: nephrin, a key component of the slit diaphragm. , 1999, Journal of the American Society of Nephrology : JASN.

[94]  田中 亮二郎.  海外文献紹介 : CD2-Associated Protein Haploinsufficiency Is Linked to Glomerular Disease Susceptibility , 2004 .

[95]  N. Hastie,et al.  Murine Denys-Drash syndrome: evidence of podocyte de-differentiation and systemic mediation of glomerulosclerosis. , 2003, Human molecular genetics.

[96]  E. Bongers,et al.  Nail-patella syndrome. Overview on clinical and molecular findings , 2002, Pediatric Nephrology.

[97]  D. Clapham,et al.  TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function , 2005, Nature Genetics.

[98]  T. Oegema,et al.  Heparan sulfate--rich anionic sites in the human glomerular basement membrane. Decreased concentration in congenital nephrotic syndrome. , 1983, The New England journal of medicine.

[99]  M. Ruegg,et al.  Agrin Is a Major Heparan Sulfate Proteoglycan in the Human Glomerular Basement Membrane , 1998, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.

[100]  J. Sanes,et al.  The renal glomerulus of mice lacking s–laminin/laminin β2: nephrosis despite molecular compensation by laminin β1 , 1995, Nature Genetics.

[101]  O. Smithies.  Why the kidney glomerulus does not clog: A gel permeation/diffusion hypothesis of renal function , 2003, Proceedings of the National Academy of Sciences of the United States of America.

[102]  L. Chodosh,et al.  Precocious Mammary Gland Development in P-Cadherin–deficient Mice , 1997, The Journal of cell biology.

[103]  D. Housman,et al.  Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome , 1991, Cell.

[104]  J. Miner.  Developmental biology of glomerular basement membrane components. , 1998, Current opinion in nephrology and hypertension.

[105]  T. B. Huber,et al.  NEPH1 defines a novel family of podocin‐interacting proteins , 2003, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

[106]  L. Wolpert.  Developmental Biology , 1968, Nature.

[107]  A. Winterpacht,et al.  Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome , 2001, Nature Genetics.

[108]  P Scambler,et al.  Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms. , 1998, Human molecular genetics.

[109]  M. Inagaki,et al.  A novel protein, densin, expressed by glomerular podocytes. , 2003, Journal of the American Society of Nephrology : JASN.

[110]  R. Kalluri,et al.  NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. , 2002, The Journal of clinical investigation.

[111]  Tsutomu Inoue,et al.  FAT is a component of glomerular slit diaphragms. , 2001, Kidney international.

[112]  T. Aigner,et al.  Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. , 2004, Human molecular genetics.

[113]  R. Cotran,et al.  CD2AP localizes to the slit diaphragm and binds to nephrin via a novel C-terminal domain. , 2001, The American journal of pathology.

[114]  A. Schedl,et al.  WT1 is a key regulator of podocyte function: reduced expression levels cause crescentic glomerulonephritis and mesangial sclerosis. , 2002, Human molecular genetics.

[115]  A. Bakkaloğlu,et al.  Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. , 2004, Journal of the American Society of Nephrology : JASN.

[116]  P. Scambler,et al.  Genotype / phenotype correlations of NPHS 1 and NPHS 2 mutations in nephrotic syndrome advocate a functional interrelationship in glomerular filtration , 2002 .

[117]  C. ffrench-Constant,et al.  Mice Lacking the Giant Protocadherin mFAT1 Exhibit Renal Slit Junction Abnormalities and a Partially Penetrant Cyclopia and Anophthalmia Phenotype , 2003, Molecular and Cellular Biology.