Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes

被引：25

作者：

Benoit, Genevieve ^{[1
,2
]}

Machuca, Eduardo ^{[1
,3
]}

Heidet, Laurence ^{[4
]}

Antignac, Corinne ^{[1
,5
,6
]}

机构：

[1] Hop Necker Enfants Malad, INSERM, U983, F-75015 Paris, France

[2] Univ Montreal, CHU Sainte Justine, Montreal, PQ H3C 3J7, Canada

[3] Pontificia Univ Catolica Chile, Escuela Med, Santiago, Chile

[4] Hop Necker Enfants Malad, AP HP, Serv Nephrol Pediatr, F-75015 Paris, France

[5] Univ Paris 05, Fac Med Paris Descartes, Paris, France

[6] Hop Necker Enfants Malad, AP HP, Dept Genet, F-75015 Paris, France

来源：

YEAR IN HUMAN AND MEDICAL GENETICS: NEW TRENDS IN MENDELIAN GENETICS | 2010年 / 1214卷

关键词：

renal development disorders; nephrotic syndrome; podocyte; Mendelian inheritance; FOCAL-SEGMENTAL GLOMERULOSCLEROSIS; CONGENITAL NEPHROTIC SYNDROME; GLOMERULAR SLIT DIAPHRAGM; RENAL-COLOBOMA SYNDROME; CLINICAL SPECTRUM; NEPHRIN MUTATIONS; LARGE COHORT; PAX2; GENE; MISSENSE MUTATIONS; NPHS2; MUTATIONS;

D O I：

10.1111/j.1749-6632.2010.05817.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A Mendelian inheritance underlies a nonnegligible proportion of hereditary kidney diseases, suggesting that the encoded proteins are essential for maintenance of the renal function. The identification of genes involved in congenital anomalies of the kidney and in familial forms of nephrotic syndrome significantly increased our understanding of the renal development and kidney filtration barrier physiology. This review will focus on the classical phenotype and clinical heterogeneity observed in the monogenic forms of these disorders. In addition, the role of susceptibility genes in kidney diseases with a complex inheritance will also be discussed.

引用

页码：83 / 98

页数：16

共 129 条

[1] A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family [J].

Abdelhak, S ;

Kalatzis, V ;

Heilig, R ;

Compain, S ;

Samson, D ;

Vincent, C ;

Weil, D ;

Cruaud, C ;

Sahly, I ;

Leibovici, M ;

BitnerGlindzicz, M ;

Francis, M ;

Lacombe, D ;

Vigneron, J ;

Charachon, R ;

Boven, K ;

Bedbeder, P ;

VanRegemorter, N ;

Weissenbach, J ;

Petit, C .

NATURE GENETICS, 1997, 15 (02) :157-164

[2] HNF1B Mutations Associate with Hypomagnesemia and Renal Magnesium Wasting [J].

Adalat, Shazia ;

Woolf, Adrian S. ;

Johnstone, Karen A. ;

Wirsing, Andrea ;

Harries, Lorna W. ;

Long, David A. ;

Hennekam, Raoul C. ;

Ledermann, Sarah E. ;

Rees, Lesley ;

van't Hoff, William ;

Marks, Stephen D. ;

Trompeter, Richard S. ;

Tullus, Kjell ;

Winyard, Paul J. ;

Cansick, Janette ;

Mushtaq, Imran ;

Dhillon, Harjeeta K. ;

Bingham, Coralie ;

Edghill, Emma L. ;

Shroff, Rukshana ;

Stanescu, Horia ;

Ryffel, Gerhart U. ;

Ellard, Sian ;

Bockenhauer, Detlef .

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2009, 20 (05) :1123-1131

[3] THE PRIMARY NEPHROTIC SYNDROME IN CHILDREN - IDENTIFICATION OF PATIENTS WITH MINIMAL CHANGE NEPHROTIC SYNDROME FROM INITIAL RESPONSE TO PREDNISONE - A REPORT OF THE INTERNATIONAL STUDY OF KIDNEY-DISEASE IN CHILDREN [J].

不详 .

JOURNAL OF PEDIATRICS, 1981, 98 (04) :561-564

[4]

ANSELL D, 2009, NEPHRON CLIN PRAC S1, V111, pC43

[5]

Aya K, 2000, KIDNEY INT, V57, P401, DOI 10.1046/j.1523-1755.2000.00859.x

[6]

Barbacci E, 1999, DEVELOPMENT, V126, P4795

[7] Clinical spectrum associated with hepatocyte nuclear factor-1β mutations [J].

Bellanné-Chantelot, C ;

Chauveau, D ;

Gautier, JF ;

Dubois-Laforgue, D ;

Clauin, S ;

Beaufils, S ;

Wilhelm, JM ;

Boitard, C ;

Noël, LH ;

Velho, G ;

Timsit, J .

ANNALS OF INTERNAL MEDICINE, 2004, 140 (07) :510-517

[8] Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome [J].

Beltcheva, O ;

Martin, P ;

Lenkkeri, U ;

Tryggvason, K .

HUMAN MUTATION, 2001, 17 (05) :368-373

[9] Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence [J].

Benko, Sabina ;

Fantes, Judy A. ;

Amiel, Jeanne ;

Kleinjan, Dirk-Jan ;

Thomas, Sophie ;

Ramsay, Jacqueline ;

Jamshidi, Negar ;

Essafi, Abdelkader ;

Heaney, Simon ;

Gordon, Christopher T. ;

McBride, David ;

Golzio, Christelle ;

Fisher, Malcolm ;

Perry, Paul ;

Abadie, Veronique ;

Ayuso, Carmen ;

Holder-Espinasse, Muriel ;

Kilpatrick, Nicky ;

Lees, Melissa M. ;

Picard, Arnaud ;

Temple, I. Karen ;

Thomas, Paul ;

Vazquez, Marie-Paule ;

Vekemans, Michel ;

Roest Crollius, Hugues ;

Hastie, Nicholas D. ;

Munnich, Arnold ;

Etchevers, Heather C. ;

Pelet, Anna ;

Farlie, Peter G. ;

FitzPatrick, David R. ;

Lyonnet, Stanislas .

NATURE GENETICS, 2009, 41 (03) :359-364

[10] Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis [J].

Berkovic, Samuel E. ;

Dibbens, Leanne M. ;

Oshlack, Alicia ;

Silver, Jeremy D. ;

Katerelos, Marina ;

Vears, Danya F. ;

Luellmann-Rauch, Renate ;

Blanz, Judith ;

Zhang, Ke Wei ;

Stankovich, Jim ;

Kalnins, Renate M. ;

Dowling, John P. ;

Andermann, Eva ;

Andermann, Frederick ;

Faldini, Enrico ;

D'Hooge, Rudi ;

Vadlamudi, Lata ;

Macdonell, Richard A. ;

Hodgson, Bree L. ;

Bayly, Marta A. ;

Savige, Judy ;

Mulley, John C. ;

Smyth, Gordon K. ;

Power, David A. ;

Saftig, Paul ;

Bahlo, Melanie .

AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 82 (03) :673-684

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