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Pediatric Nephrology

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01.01.2012 | Review

Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney

verfasst von: Audrey Putoux, Tania Attie-Bitach, Jéléna Martinovic, Marie-Claire Gubler

Erschienen in: Pediatric Nephrology | Ausgabe 1/2012

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Abstract

Bardet-Biedl syndrome (BBS) is a multisystemic developmental disorder diagnosed on the basis of the presence of obesity, retinal defects, polydactyly, hypogonadism, renal dysfunction, and learning disabilities. The syndrome is genetically heterogeneous with 14 BBS genes identified to date. Since the cloning of the first gene in 2000, a combination of genetic, in vitro, and in vivo studies have highlighted ciliary dysfunction as a primary cause of BBS pathology. Pleiotropy of ciliopathy phenotypes and complex genetic interactions between causal and modifying alleles of ciliary genes contribute to phenotypic variability. In particular, kidney disease in BBS is clinically heterogeneous, but is now recognized as a cardinal feature and a major cause of mortality in BBS.

Bardet G (1920) On congenital obesity syndrome with polydactyly and retinitis pigmentosa (a contribution to the study of clinical forms of hypophyseal obesity). Obes Res 3:387–399

Biedl A (1922) A pair of siblings with adiposo-genital dystrophy. Obes Res 3:404

Laurence JZ, Moon RC (1866) Four cases of "retinitis pigmentosa" occurring in the same family, and accompanied by general imperfections of development. Obes Res 3:400–403

Farag TI, Teebi AS (1989) High incidence of Bardet Biedl syndrome among the Bedouin. Clin Genet 36:463–464PubMedCrossRef

Green JS, Parfrey PS, Harnett JD, Farid NR, Cramer BC, Johnson G, Heath O, McManamon PJ, O'Leary E, Pryse-Phillips W (1989) The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N Engl J Med 321:1002–1009PubMedCrossRef

Ansley SJ, Badano JL, Blacque OE, Hill J, Hoskins BE, Leitch CC, Kim JC, Ross AJ, Eichers ER, Teslovich TM, Mah AK, Johnsen RC, Cavender JC, Lewis RA, Leroux MR, Beales PL, Katsanis N (2003) Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature 425:628–633PubMedCrossRef

Zaghloul NA, Katsanis N (2009) Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. J Clin Invest 119:428–437PubMedCrossRef

Baker K, Beales PL (2009) Making sense of cilia in disease: the human ciliopathies. Am J Med Genet C Semin Med Genet 151C:281–295PubMedCrossRef

Fliegauf M, Benzing T, Omran H (2007) When cilia go bad: cilia defects and ciliopathies. Nat Rev Mol Cell Biol 8:880–893PubMedCrossRef

10.

Gerdes JM, Davis EE, Katsanis N (2009) The vertebrate primary cilium in development, homeostasis, and disease. Cell 137:32–45PubMedCrossRef

11.

Goetz SC, Anderson KV (2010) The primary cilium: a signalling centre during vertebrate development. Nat Rev Genet 11:331–344PubMedCrossRef

12.

Hildebrandt F, Otto E (2005) Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease? Nat Rev Genet 6:928–940PubMedCrossRef

13.

Satir P, Christensen ST (2007) Overview of structure and function of mammalian cilia. Annu Rev Physiol 69:377–400PubMedCrossRef

14.

Gerdes JM, Katsanis N (2008) Ciliary function and Wnt signal modulation. Curr Top Dev Biol 85:175–195PubMedCrossRef

15.

Wong SY, Reiter JF (2008) The primary cilium at the crossroads of mammalian hedgehog signaling. Curr Top Dev Biol 85:225–260PubMedCrossRef

16.

Jin H, Nachury MV (2009) The BBSome. Curr Biol 19:R472–R473PubMedCrossRef

17.

Nachury MV, Loktev AV, Zhang Q, Westlake CJ, Peranen J, Merdes A, Slusarski DC, Scheller RH, Bazan JF, Sheffield VC, Jackson PK (2007) A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell 129:1201–1213PubMedCrossRef

18.

Billingsley G, Bin J, Fieggen KJ, Duncan JL, Gerth C, Ogata K, Wodak SS, Traboulsi EI, Fishman GA, Paterson A, Chitayat D, Knueppel T, Millan JM, Mitchell GA, Deveault C, Heon E (2010) Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. J Med Genet 47:453–463PubMedCrossRef

19.

Seo S, Baye LM, Schulz NP, Beck JS, Zhang Q, Slusarski DC, Sheffield VC (2010) BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. Proc Natl Acad Sci USA 107:1488–1493PubMedCrossRef

20.

Stoetzel C, Muller J, Laurier V, Davis EE, Zaghloul NA, Vicaire S, Jacquelin C, Plewniak F, Leitch CC, Sarda P, Hamel C, de Ravel TJ, Lewis RA, Friederich E, Thibault C, Danse JM, Verloes A, Bonneau D, Katsanis N, Poch O, Mandel JL, Dollfus H (2007) Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. Am J Hum Genet 80:1–11PubMedCrossRef

21.

Tobin JL, Beales PL (2007) Bardet-Biedl syndrome: beyond the cilium. Pediatr Nephrol 22:926–936PubMedCrossRef

22.

Berbari NF, Lewis JS, Bishop GA, Askwith CC, Mykytyn K (2008) Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia. Proc Natl Acad Sci USA 105:4242–4246PubMedCrossRef

23.

Marion V, Stoetzel C, Schlicht D, Messaddeq N, Koch M, Flori E, Danse JM, Mandel JL, Dollfus H (2009) Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation. Proc Natl Acad Sci USA 106:1820–1825PubMedCrossRef

24.

Cherian MP, Al-Sanna'a NA (2009) Clinical spectrum of Bardet-Biedl syndrome among four Saudi Arabian families. Clin Dysmorphol 18:188–194PubMedCrossRef

25.

Harville HM, Held S, Diaz-Font A, Davis EE, Diplas BH, Lewis RA, Borochowitz ZU, Zhou W, Chaki M, MacDonald J, Kayserili H, Beales PL, Katsanis N, Otto E, Hildebrandt F (2010) Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping. J Med Genet 47:262–267PubMedCrossRef

26.

Muller J, Stoetzel C, Vincent MC, Leitch CC, Laurier V, Danse JM, Helle S, Marion V, Bennouna-Greene V, Vicaire S, Megarbane A, Kaplan J, Drouin-Garraud V, Hamdani M, Sigaudy S, Francannet C, Roume J, Bitoun P, Goldenberg A, Philip N, Odent S, Green J, Cossee M, Davis EE, Katsanis N, Bonneau D, Verloes A, Poch O, Mandel JL, Dollfus H (2010) Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. Hum Genet 127:583–593PubMedCrossRef

27.

Pereiro I, Valverde D, Pineiro-Gallego T, Baiget M, Borrego S, Ayuso C, Searby C, Nishimura D (2010) New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping. Mol Vis 16:137–143PubMed

28.

Putoux A, Mougou-Zerelli S, Thomas S, Elkhartoufi N, Audollent S, Le Merrer M, Lachmeijer A, Sigaudy S, Buenerd A, Fernandez C, Delezoide AL, Gubler MC, Salomon R, Saad A, Cordier MP, Vekemans M, Bouvier R, Attie-Bitach T (2010) BBS10 mutations are frequent in “Meckel” type cystic kidneys. J Med Genet 47:848–852PubMedCrossRef

29.

Stoetzel C, Laurier V, Davis EE, Muller J, Rix S, Badano JL, Leitch CC, Salem N, Chouery E, Corbani S, Jalk N, Vicaire S, Sarda P, Hamel C, Lacombe D, Holder M, Odent S, Holder S, Brooks AS, Elcioglu NH, Silva ED, Rossillion B, Sigaudy S, de Ravel TJ, Lewis RA, Leheup B, Verloes A, Amati-Bonneau P, Megarbane A, Poch O, Bonneau D, Beales PL, Mandel JL, Katsanis N, Dollfus H (2006) BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet 38:521–524PubMedCrossRef

30.

Katsanis N, Ansley SJ, Badano JL, Eichers ER, Lewis RA, Hoskins BE, Scambler PJ, Davidson WS, Beales PL, Lupski JR (2001) Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science 293:2256–2259PubMedCrossRef

31.

Badano JL, Kim JC, Hoskins BE, Lewis RA, Ansley SJ, Cutler DJ, Castellan C, Beales PL, Leroux MR, Katsanis N (2003) Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. Hum Mol Genet 12:1651–1659PubMedCrossRef

32.

Katsanis N, Beales PL, Woods MO, Lewis RA, Green JS, Parfrey PS, Ansley SJ, Davidson WS, Lupski JR (2000) Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Nat Genet 26:67–70PubMedCrossRef

33.

Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, Diaz-Font A, Rix S, Alfadhel M, Lewis RA, Eyaid W, Banin E, Dollfus H, Beales PL, Badano JL, Katsanis N (2008) Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat Genet 40:443–448PubMedCrossRef

34.

Karmous-Benailly H, Martinovic J, Gubler MC, Sirot Y, Clech L, Ozilou C, Auge J, Brahimi N, Etchevers H, Detrait E, Esculpavit C, Audollent S, Goudefroye G, Gonzales M, Tantau J, Loget P, Joubert M, Gaillard D, Jeanne-Pasquier C, Delezoide AL, Peter MO, Plessis G, Simon-Bouy B, Dollfus H, Le Merrer M, Munnich A, Encha-Razavi F, Vekemans M, Attie-Bitach T (2005) Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. Am J Hum Genet 76:493–504PubMedCrossRef

35.

Harnett JD, Green JS, Cramer BC, Johnson G, Chafe L, McManamon P, Farid NR, Pryse-Phillips W, Parfrey PS (1988) The spectrum of renal disease in Laurence-Moon-Biedl syndrome. N Engl J Med 319:615–618PubMedCrossRef

36.

Hurley RM, Dery P, Norady MB, Drummond KN (1975) The renal lesion of the Laurence-Moon-Biedl syndrome. J Pediatr 87:206–209PubMedCrossRef

37.

Tieder M, Levy M, Gubler M, Gagnadoux M, Broyer M (1982) Renal abnormalities in the Bardet-Biedl syndrome. Int J Pediatr Nephrol 3:199–203PubMed

38.

de Pontual L, Zaghloul NA, Thomas S, Davis EE, McGaughey DM, Dollfus H, Baumann C, Bessling SL, Babarit C, Pelet A, Gascue C, Beales P, Munnich A, Lyonnet S, Etchevers H, Attie-Bitach T, Badano JL, McCallion AS, Katsanis N, Amiel J (2009) Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease. Proc Natl Acad Sci USA 106:13921–13926PubMedCrossRef

39.

Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA (1999) New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet 36:437–446PubMed

40.

Bauman ML, Hogan GR (1973) Laurence-Moon-Biedl syndrome. Report of two unrelated children less than 3 years of age. Am J Dis Child 126:119–126PubMed

41.

Hjortshoj TD, Gronskov K, Philp AR, Nishimura DY, Riise R, Sheffield VC, Rosenberg T, Brondum-Nielsen K (2010) Bardet-Biedl syndrome in Denmark-report of 13 novel sequence variations in six genes. Hum Mutat 31:429–436PubMedCrossRef

42.

Riise R, Andreasson S, Borgastrom MK, Wright AF, Tommerup N, Rosenberg T, Tornqvist K (1997) Intrafamilial variation of the phenotype in Bardet-Biedl syndrome. Br J Ophthalmol 81:378–385PubMedCrossRef

43.

Rooryck C, Lacombe D (2008) Bardet-Biedl syndrome. Ann Endocrinol (Paris) 69:463–471CrossRef

44.

Moore SJ, Green JS, Fan Y, Bhogal AK, Dicks E, Fernandez BA, Stefanelli M, Murphy C, Cramer BC, Dean JC, Beales PL, Katsanis N, Bassett AS, Davidson WS, Parfrey PS (2005) Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. Am J Med Genet A 132:352–360PubMed

45.

Parfrey P, Davidson W, Green J (2002) Clinical and genetic epidemiology of inherited renal disease in Newfoundland. Kidney Int 61:1925–1934PubMedCrossRef

46.

Iannaccone A, Mykytyn K, Persico AM, Searby CC, Baldi A, Jablonski MM, Sheffield VC (2005) Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in the BBS4 gene. Am J Med Genet A 132:343–346PubMed

47.

Kulaga HM, Leitch CC, Eichers ER, Badano JL, Lesemann A, Hoskins BE, Lupski JR, Beales PL, Reed RR, Katsanis N (2004) Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Nat Genet 36:994–998PubMedCrossRef

48.

Abu Safieh L, Aldahmesh MA, Shamseldin H, Hashem M, Shaheen R, Alkuraya H, Al Hazzaa SA, Al-Rajhi A, Alkuraya FS (2010) Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping. J Med Genet 47:236–241PubMedCrossRef

49.

Elbedour K, Zucker N, Zalzstein E, Barki Y, Carmi R (1994) Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients. Am J Med Genet 52:164–169PubMedCrossRef

50.

Churchill DN, McManamon P, Hurley RM (1981) Renal disease-a sixth cardinal feature of the Laurence-Moon-Biedl syndrome. Clin Nephrol 16:151–154PubMed

51.

O'Dea D, Parfrey PS, Harnett JD, Hefferton D, Cramer BC, Green J (1996) The importance of renal impairment in the natural history of Bardet-Biedl syndrome. Am J Kidney Dis 27:776–783PubMedCrossRef

52.

Imhoff O, Marion V, Stoetzel C, Durand M, Holder M, Sigaudy S, Sarda P, Hamel CP, Brandt C, Dollfus H, Moulin B (2010) Bardet-Biedl Syndrome: a study of the renal and cardiovascular phenotypes in a French cohort. Clin J Am Soc Nephrol. doi:10.2215/CJN.03320410 PubMed

53.

Gourdol O, David L, Colon S, Bouvier R, Ayral A, Aguercif M, Francois R (1984) Renal involvement in the Laurence-Moon-Bardet-Biedl syndrome. Apropos of 3 cases. Pédiatrie 39:175–181PubMed

54.

Ansari MR, Junejo AM (2006) Bardet-Biedl syndrome presenting with end stage renal failure. J Coll Physicians Surg Pak 16:487–488PubMed

55.

Hergesell O (1997) End-stage renal disease due to Bardet-Biedl syndrome. Nephrol Dial Transplant 12:1773–1774PubMedCrossRef

56.

Hooda AK, Karan SC, Bishnoi JS, Nandwani A, Sinha T (2009) Renal transplant in a child with Bardet-Biedl syndrome: a rare cause of end-stage renal disease. Indian J Nephrol 19:112–114PubMedCrossRef

57.

Langer RM, Foldes K, Szalay L, Jaray J (2005) Laurence-Moon-Bardet-Biedl syndrome for kidney transplantation at the age of 57 years. Transplant Proc 37:4223–4224PubMedCrossRef

58.

Sharifian M, Dadkhah-Chimeh M, Einollahi B, Nafar M, Simforoush N, Basiri A, Otukesh H (2007) Renal transplantation in patients with Bardet-Biedl syndrome. Arch Iran Med 10:339–342PubMed

59.

Ucar B, Yakut A, Kural N, Buyukasik F, Vardareli E (1997) Renal involvement in the Laurence-Moon-Bardet-Biedl syndrome: report of five cases. Pediatr Nephrol 11:31–35PubMedCrossRef

60.

Ulusoy S, Kaynar K, Gul S, Ukinc K (2004) Renal failure due to Bardet-Biedl syndrome. A case report. Med Princ Pract 13:380–382PubMedCrossRef

61.

Bluett NH, Chantler C, Singer JD, Saxton HM (1977) Congenital renal abnormalities in the Laurence-Moon-Biedl syndrome. Arch Dis Child 52:968–970PubMedCrossRef

62.

Labrune M, Gaux JC, Brault B (1974) The Laurence-Moon-Bardet-Biedl syndrome. Urographic signs. Ann Radiol Paris 17:385–389PubMed

63.

Cassart M, Eurin D, Didier F, Guibaud L, Avni EF (2004) Antenatal renal sonographic anomalies and postnatal follow-up of renal involvement in Bardet-Biedl syndrome. Ultrasound Obstet Gynecol 24:51–54PubMedCrossRef

64.

Chaumoitre K, Brun M, Cassart M, Maugey-Laulom B, Eurin D, Didier F, Avni EF (2006) Differential diagnosis of fetal hyperechogenic cystic kidneys unrelated to renal tract anomalies: A multicenter study. Ultrasound Obstet Gynecol 28:911–917PubMedCrossRef

65.

Colin D, Meunier P, Forestier D, Le Fur JM, Le Guyader J, Bellet M (1989) The value of echography in the early diagnosis of renal lesions in the Laurence-Moon-Bardet-Biedl syndrome. Apropos of a case. J Radiol 70:61–64PubMed

66.

Dippell J, Varlam DE (1998) Early sonographic aspects of kidney morphology in Bardet-Biedl syndrome. Pediatr Nephrol 12:559–563PubMedCrossRef

67.

Price D, Gartner JG, Kaplan BS (1981) Ultrastructural changes in the glomerular basement membrane of patients with Laurence-Moon-Biedl-Bardet syndrome. Clin Nephrol 16:283–288PubMed

68.

Beales PL, Badano JL, Ross AJ, Ansley SJ, Hoskins BE, Kirsten B, Mein CA, Froguel P, Scambler PJ, Lewis RA, Lupski JR, Katsanis N (2003) Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. Am J Hum Genet 72:1187–1199PubMedCrossRef

69.

Mykytyn K, Nishimura DY, Searby CC, Beck G, Bugge K, Haines HL, Cornier AS, Cox GF, Fulton AB, Carmi R, Iannaccone A, Jacobson SG, Weleber RG, Wright AF, Riise R, Hennekam RC, Lüleci G, Berker-Karauzum S, Biesecker LG, Stone EM, Sheffield VC (2003) Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). Am J Hum Genet 72:429–437PubMedCrossRef

70.

Badano JL, Leitch CC, Ansley SJ, May-Simera H, Lawson S, Lewis RA, Beales PL, Dietz HC, Fisher S, Katsanis N (2006) Dissection of epistasis in oligogenic Bardet-Biedl syndrome. Nature 439:326–330PubMedCrossRef

71.

Laurier V, Stoetzel C, Muller J, Thibault C, Corbani S, Jalkh N, Salem N, Chouery E, Poch O, Licaire S, Danse JM, Amati-Bonneau P, Bonneau D, Megarbane A, Mandel JL, Dollfus H (2006) Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism. Eur J Hum Genet 14:1195–1203PubMedCrossRef

72.

Beales PL, Reid HA, Griffiths MH, Maher ER, Flinter FA, Woolf AS (2000) Renal cancer and malformations in relatives of patients with Bardet-Biedl syndrome. Nephrol Dial Transplant 15:1977–1985PubMedCrossRef

73.

Benzinou M, Walley A, Lobbens S, Charles MA, Jouret B, Fumeron F, Balkau B, Meyre D, Froguel P (2006) Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians. Diabetes 55:2876–2882PubMedCrossRef

74.

Cox GF, Hansen RM, Quinn N, Fulton AB (2003) Retinal function in carriers of Bardet-Biedl syndrome. Arch Ophthalmol 121:804–810PubMedCrossRef

75.

Croft JB, Morrell D, Chase CL, Swift M (1995) Obesity in heterozygous carriers of the gene for the Bardet-Biedl syndrome. Am J Med Genet 55:12–15PubMedCrossRef

76.

Hjortshoj TD, Gronskov K, Rosenberg T, Brondum-Nielsen K, Olsen JH (2007) Risk for cancer in patients with Bardet-Biedl syndrome and their relatives. Am J Med Genet A 143A:1699–1702PubMedCrossRef

77.

Webb MP, Dicks EL, Green JS, Moore SJ, Warden GM, Gamberg JS, Davidson WS, Young TL, Parfrey PS (2009) Autosomal recessive Bardet-Biedl syndrome: first-degree relatives have no predisposition to metabolic and renal disorders. Kidney Int 76:215–223PubMedCrossRef

Titel: Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney
verfasst von: Audrey Putoux
Tania Attie-Bitach
Jéléna Martinovic
Marie-Claire Gubler
Publikationsdatum: 01.01.2012
Verlag: Springer-Verlag
Erschienen in: Pediatric Nephrology / Ausgabe 1/2012
Print ISSN: 0931-041X
Elektronische ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-010-1751-3

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