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17.07.2017 | Clinical Quiz

Neonatal stroke and haematuria: Answers

verfasst von: Sally Kellett, Mathieu Lemaire, Steven P. Miller, Christoph Licht, Grace Yoon, Nomazulu Dlamini, Damien Noone

Erschienen in: Pediatric Nephrology | Ausgabe 5/2018

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Abstract

Background

This is a report of an infant born near term with neonatal stroke and haematuria. The renal phenotype, pathogenic genotype and pathological findings on renal biopsy are discussed.

Case-Diagnosis

Prenatal magnetic resonance imaging revealed anomalies which persisted postnatally. Haematuria was detected during follow-up. The posttnatal renal ultrasound scan was normal, and there was no associated proteinuria. A likely pathogenic genetic mutation was detected.

Conclusions

This case highlights a relatively newly discovered cause of hereditary nephropathy in which the basement membrane is affected, with initial effects on the glomerular membranes and subsequent effects on the renal tubular basement membranes.

Saini AG, Sankhyan N, Bhattad S, Vyas S, Saikia B, Singhi P (2014) CNS vasculitis and stroke in neonatal pulus erythematosus: a case report and review of literature. Eur J Paediatr Neurol 18:444–448CrossRefPubMed

Meuwissen ME, Halley DJ, Smit LS, Lequin MH, Cobben JM, de Coo R, van Harssel J, Sallevelt S, Woldringh G, van der Knaap MS, de Vries LS, Mancini GM (2015) The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature. Genet Med 17:843–853CrossRefPubMed

Mochida GH, Ganesh VS, Felie JM, Gleason D, Hill RS, Clapham KR, Rakiec D, Tan WH, Akawi N, Al-Saffar M, Partlow JN, Tinschert S, Barkovich AJ, Ali B, Al-Gazali L, Walsh CA (2010) A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Am J Hum Genet 87:882–889CrossRefPubMedPubMedCentral

Meuwissen ME, de Vries LS, Verbeek HA, Lequin MH, Govaert PP, Schot R, Cowan FM, Hennekam R, Rizzu P, Verheijen FW, Wessels MW, Mancini GM (2011) Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly. Neurology 76:844–846CrossRefPubMed

Alamowitch S, Plaisier E, Favrole P, Prost C, Chen Z, Van Agtmael T, Marro B, Ronco P (2009) Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome. Neurology 73:1873–1882

Gould DB, Phalan FC, Breedveld GJ, van Mil SE, Smith RS, Schimenti JC, Aguglia U, van der Knaap MS, Heutink P, John SW (2005) Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. Science 308:1167–1171CrossRefPubMed

Gould DB, Phalan FC, van Mil SE, Sundberg JP, Vahedi K, Massin P, Bousser MG, Heutink P, Miner JH, Tournier-Lasserve E, John SW (2006) Role of COL4A1 in small-vessel disease and hemorrhagic stroke. N Engl J Med 354:1489–1496CrossRefPubMed

Shah S, Ellard S, Kneen R, Lim M, Osborne N, Rankin J, Stoodley N, van der Knaap M, Whitney A, Jardine P (2012) Childhood presentation of COL4A1 mutations. Dev Med Child Neurol 54:569–5674CrossRefPubMed

Plaisier E, Gribouval O, Alamowitch S, Mougenot B, Prost C, Verpont MC, Marro B, Desmettre T, Cohen SY, Roullet E, Dracon M, Fardeau M, Van Agtmael T, Kerjaschki D, Antignac C, Ronco P (2007) COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. N Engl J Med 357:2687–2695CrossRefPubMed

10.

de Vries LS, Koopman C, Groenendaal F, Van Schooneveld M, Verheijen FW, Verbeek E, Witkamp TD, van der Worp HB, Mancini G (2009) COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage. Ann Neurol 65:12–18CrossRefPubMed

11.

Plaisier E, Chen Z, Gekeler F, Benhassine S, Dahan K, Marro B, Alamowitch S, Paques M, Ronco P (2010) Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain. Am J Med Genet A 152A:2250–2555CrossRef

12.

Gale DP, Oygar DD, Lin F, Oygar PD, Khan N, Connor TM, Lapsley M, Maxwell PH, Neild GH (2016) A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen. Nephrol Dial Transplant 31:1908–1914CrossRefPubMedPubMedCentral

13.

Chen Z, Migeon T, Verpont MC, Zaidan M, Sado Y, Kerjaschki D, Ronco P, Plaisier E (2016) HANAC syndrome Col4a1 mutation causes neonate Glomerular Hyperpermeability and adult Glomerulocystic kidney disease. J Am Soc Nephrol 27:1042–1054CrossRefPubMed

14.

Jones FE, Bailey MA, Murray LS, Lu Y, McNeilly S, Schlötzer-Schrehardt U, Lennon R, Sado Y, Brownstein DG, Mullins JJ, Kadler KE, Van Agtmael T (2016) ER stress and basement membrane defects combine to cause glomerular and tubular renal disease resulting from Col4a1 mutations in mice. Dis Model Mech 9:165–176CrossRefPubMedPubMedCentral

15.

Vahedi K, Alamowitch S (2011) Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease. Curr Opin Neurol 24:63–68CrossRefPubMed

16.

Leitinger B, Hohenester E (2007) Mammalian collagen receptors. Matrix Biol 26:146–155CrossRefPubMed

17.

Miner JH (1998) Developmental biology of glomerular basement membrane components. Curr Opin Nephrol Hypertens 7:13–19CrossRefPubMed

18.

Thorner PS (2007) Alport syndrome and thin basement membrane nephropathy. Nephron Clin Pract 106:c82–c88CrossRefPubMed

19.

Harvey SJ, Zheng K, Sado Y, Naito I, Ninomiya Y, Jacobs RM, Hudson BG, Thorner PS (1998) Role of distinct type IV collagen networks in glomerular development and function. Kidney Int 54:1857–1866CrossRefPubMed

20.

Hudson BG, Tryggvason K, Sundaramoorthy M, Neilson EG (2003) Alport's syndrome, Goodpasture's syndrome, and type IV collagen. N Engl J Med 348:2543–2556CrossRefPubMed

21.

Noone D, Licht C (2013) An update on the pathomechanisms and future therapies of Alport syndrome. Pediatr Nephrol 28:1025–1036CrossRefPubMed

22.

Kalluri R, Shield CF, Todd P, Hudson BG, Neilson EG (1997) Isoform switching of type IV collagen is developmentally arrested in X-linked Alport syndrome leading to increased susceptibility of renal basement membranes to endoproteolysis. J Clin Invest 99:2470–2478CrossRefPubMedPubMedCentral

Titel: Neonatal stroke and haematuria: Answers
verfasst von: Sally Kellett
Mathieu Lemaire
Steven P. Miller
Christoph Licht
Grace Yoon
Nomazulu Dlamini
Damien Noone
Publikationsdatum: 17.07.2017
Verlag: Springer Berlin Heidelberg
Erschienen in: Pediatric Nephrology / Ausgabe 5/2018
Print ISSN: 0931-041X
Elektronische ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-017-3747-8

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Neonatal stroke and haematuria: Answers

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Background

Case-Diagnosis

Conclusions

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