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Published in: Pediatric Nephrology 12/2016

01-12-2016 | Clinical Quiz

Renal failure from birth—AKI or CKD? Answers

Authors: Sean Carter, Abhijit Dixit, Andrew Lunn, Anjum Deorukhkar, Martin Christian

Published in: Pediatric Nephrology | Issue 12/2016

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Excerpt

Oliguric renal failure from birth is unusual in the absence of a hypoxic-ischaemic or toxic insult to cause AKI. Ultrasonography may be helpful in distinguishing a chronic picture from an acute picture, but in this case large bright kidneys are more suggestive of AKI. Antenatal oligohydramnios and IUGR are reliable antenatal markers, making CKD more likely in spite of an absence of the ultrasound appearance of hypo-dysplastic kidneys. …
Literature
1.
go back to reference Mueller RF (1994) The Denys–Drash syndrome. J Med Genet 31:471–477 Mueller RF (1994) The Denys–Drash syndrome. J Med Genet 31:471–477
2.
go back to reference Denys P, Malvaux P, Van Den Berghe H, Tanghe W, Proesmans W (1967) Association of an anatomo-pathological syndrome of male pseudohermaphroditism, Wilms’ tumor, parenchymatous nephropathy and XX/XY mosaicism. Arch Fr Pediatr 24:729–739PubMed Denys P, Malvaux P, Van Den Berghe H, Tanghe W, Proesmans W (1967) Association of an anatomo-pathological syndrome of male pseudohermaphroditism, Wilms’ tumor, parenchymatous nephropathy and XX/XY mosaicism. Arch Fr Pediatr 24:729–739PubMed
3.
go back to reference Drash A, Sherman F, Hartmann WH, Blizzard RM (1970) A syndrome of pseudohermaphroditism, Wilms’ tumor, hypertension, and degenerative renal disease. J Pediatr 76:585–593CrossRefPubMed Drash A, Sherman F, Hartmann WH, Blizzard RM (1970) A syndrome of pseudohermaphroditism, Wilms’ tumor, hypertension, and degenerative renal disease. J Pediatr 76:585–593CrossRefPubMed
4.
go back to reference Call KM, Glaser T, Ito CY, Buckler AJ, Pelletier J, Haber DA, Rose EA, Kral A, Yeger H, Lewis WH, Jones C, Housman DE (1990) Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms’ tumor locus. Cell 60:509–520CrossRefPubMed Call KM, Glaser T, Ito CY, Buckler AJ, Pelletier J, Haber DA, Rose EA, Kral A, Yeger H, Lewis WH, Jones C, Housman DE (1990) Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms’ tumor locus. Cell 60:509–520CrossRefPubMed
5.
go back to reference Royer-Pokora B, Beier M, Henzler M, Alam R, Schumacher V, Weirich A, Huff V (2004) Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development. Am J Med Genet Part A 127A:249–257CrossRefPubMed Royer-Pokora B, Beier M, Henzler M, Alam R, Schumacher V, Weirich A, Huff V (2004) Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development. Am J Med Genet Part A 127A:249–257CrossRefPubMed
6.
go back to reference Hassinger A, Garimella S (2013) Refractory hypotension after bilateral nephrectomies in a Denys–Drash patient with phenylketonuria. Pediatr Nephrol 28:345–348CrossRefPubMed Hassinger A, Garimella S (2013) Refractory hypotension after bilateral nephrectomies in a Denys–Drash patient with phenylketonuria. Pediatr Nephrol 28:345–348CrossRefPubMed
7.
go back to reference Maalouf EF, Ferguson J, van Heyningen V, Modi N (1998) In utero nephropathy, Denys–Drash syndrome and Potter phenotype. Pediatr Nephrol 12:449–451CrossRefPubMed Maalouf EF, Ferguson J, van Heyningen V, Modi N (1998) In utero nephropathy, Denys–Drash syndrome and Potter phenotype. Pediatr Nephrol 12:449–451CrossRefPubMed
8.
go back to reference Jeanpierre C, Denamur E, Henry I, Cabanis MO, Luce S, Cecille A, Elion J, Peuchmaur M, Loirat C, Niaudet P, Gubler MC, Junien C (1998) Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database. Am J Hum Genet 62:824–833CrossRefPubMedPubMedCentral Jeanpierre C, Denamur E, Henry I, Cabanis MO, Luce S, Cecille A, Elion J, Peuchmaur M, Loirat C, Niaudet P, Gubler MC, Junien C (1998) Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database. Am J Hum Genet 62:824–833CrossRefPubMedPubMedCentral
9.
go back to reference Hakan N, Aydin M, Erdogan O, Cavusoglu YH, Aycan Z, Ozaltin F, Zenciroglu A, Apaydin S, Gunes R, Sahin G, Cinar G, Okumus N (2012) A novel WT1 gene mutation in a newborn infant diagnosed with Denys–Drash syndrome. Genet Couns 23:255–261PubMed Hakan N, Aydin M, Erdogan O, Cavusoglu YH, Aycan Z, Ozaltin F, Zenciroglu A, Apaydin S, Gunes R, Sahin G, Cinar G, Okumus N (2012) A novel WT1 gene mutation in a newborn infant diagnosed with Denys–Drash syndrome. Genet Couns 23:255–261PubMed
10.
go back to reference Ruf RG, Schultheiss M, Lichtenberger A, Karle SM, Zalewski I, Mucha B, Everding AS, Neuhaus T, Patzer L, Plank C, Haas JP, Ozaltin F, Imm A, Fuchshuber A, Bakkaloglu A, Hildebrandt F (2004) Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome. Kidney Int 66:564–570CrossRefPubMed Ruf RG, Schultheiss M, Lichtenberger A, Karle SM, Zalewski I, Mucha B, Everding AS, Neuhaus T, Patzer L, Plank C, Haas JP, Ozaltin F, Imm A, Fuchshuber A, Bakkaloglu A, Hildebrandt F (2004) Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome. Kidney Int 66:564–570CrossRefPubMed
11.
go back to reference Antonius T, van Bon B, Eggink A, van der Burgt I, Noordam K, van Heijst A (2008) Denys–Drash syndrome and congenital diaphragmatic hernia: Another case with the 1097G > A(Arg366His) mutation. Am J Med Genet Part A 146A:496–499CrossRefPubMed Antonius T, van Bon B, Eggink A, van der Burgt I, Noordam K, van Heijst A (2008) Denys–Drash syndrome and congenital diaphragmatic hernia: Another case with the 1097G > A(Arg366His) mutation. Am J Med Genet Part A 146A:496–499CrossRefPubMed
12.
go back to reference Baird PN, Santos A, Groves N, Jadresic L, Cowell JK (1992) Constitutional mutations in the WT1 gene in patients with Denys–Drash syndrome. Hum Mol Genet 1:301–305CrossRefPubMed Baird PN, Santos A, Groves N, Jadresic L, Cowell JK (1992) Constitutional mutations in the WT1 gene in patients with Denys–Drash syndrome. Hum Mol Genet 1:301–305CrossRefPubMed
13.
go back to reference Cho HY, Lee BS, Kang CH, Kim WH, Ha IS, Cheong HI, Choi Y (2006) Hydrothorax in a patient with Denys–Drash syndrome associated with a diaphragmatic defect. Pediatr Nephrol 21:1909–1912 Cho HY, Lee BS, Kang CH, Kim WH, Ha IS, Cheong HI, Choi Y (2006) Hydrothorax in a patient with Denys–Drash syndrome associated with a diaphragmatic defect. Pediatr Nephrol 21:1909–1912
14.
go back to reference Devriendt K, Deloof E, Moerman P, Legius E, Vanhole C, de Zegher F, Proesmans W, Devlieger H (1995) Diaphragmatic hernia in Denys–Drash syndrome. Am J Med Genet 57:97–101CrossRefPubMed Devriendt K, Deloof E, Moerman P, Legius E, Vanhole C, de Zegher F, Proesmans W, Devlieger H (1995) Diaphragmatic hernia in Denys–Drash syndrome. Am J Med Genet 57:97–101CrossRefPubMed
15.
go back to reference Dharnidharka VR, Ruteshouser EC, Rosen S, Kozakewich H, Harris HW Jr, Herrin JT, Huff V (2001) Pulmonary dysplasia, Denys–Drash syndrome and Wilms tumor 1 gene mutation in twins. Pediatr Nephrol 16:227–231CrossRefPubMed Dharnidharka VR, Ruteshouser EC, Rosen S, Kozakewich H, Harris HW Jr, Herrin JT, Huff V (2001) Pulmonary dysplasia, Denys–Drash syndrome and Wilms tumor 1 gene mutation in twins. Pediatr Nephrol 16:227–231CrossRefPubMed
16.
go back to reference Guschmann M, Vogel M, Schumacher V, Royer-Pokora B, Neitzel H, Lennert T (1998) Früher neonataler Tod bei Drash-Syndrom. Monatsschr Kinderheilkd 146:683–686CrossRef Guschmann M, Vogel M, Schumacher V, Royer-Pokora B, Neitzel H, Lennert T (1998) Früher neonataler Tod bei Drash-Syndrom. Monatsschr Kinderheilkd 146:683–686CrossRef
17.
go back to reference Megremis S, Mitsioni A, Fylaktou I, Tzeli SK, Komianou F, Stefanidis CJ, Kanavakis E, Traeger-Synodinos J (2011) Broad and unexpected phenotypic expression in Greek children with steroid-resistant nephrotic syndrome due to mutations in the Wilms’ tumor 1 (WT1) gene. Eur J Pediatr 170:1529–1534 Megremis S, Mitsioni A, Fylaktou I, Tzeli SK, Komianou F, Stefanidis CJ, Kanavakis E, Traeger-Synodinos J (2011) Broad and unexpected phenotypic expression in Greek children with steroid-resistant nephrotic syndrome due to mutations in the Wilms’ tumor 1 (WT1) gene. Eur J Pediatr 170:1529–1534
18.
go back to reference Nordenskjold A, Fricke G, Anvret M (1995) Absence of mutations in the WT1 gene in patients with XY gonadal dysgenesis. Hum Genet 96:102–104 Nordenskjold A, Fricke G, Anvret M (1995) Absence of mutations in the WT1 gene in patients with XY gonadal dysgenesis. Hum Genet 96:102–104
19.
go back to reference Pelletier J, Bruening W, Kashtan CE, Mauer SM, Manivel JC, Striegel JE, Houghton DC, Junien C, Habib R, Fouser L, Fine RN, Silverman BL, Haber DA, Housman D (1991) Germline mutations in the Wilms’ tumor suppressor gene are associated with abnormal urogenital development in Denys–Drash syndrome. Cell 67:437–447CrossRefPubMed Pelletier J, Bruening W, Kashtan CE, Mauer SM, Manivel JC, Striegel JE, Houghton DC, Junien C, Habib R, Fouser L, Fine RN, Silverman BL, Haber DA, Housman D (1991) Germline mutations in the Wilms’ tumor suppressor gene are associated with abnormal urogenital development in Denys–Drash syndrome. Cell 67:437–447CrossRefPubMed
20.
go back to reference Lin HC, Lin SK, Wen MC, Tseng CF, Fu LS, Chi CS (2004) Denys–Drash syndrome. J Formos Med Assoc 103:71–74 Lin HC, Lin SK, Wen MC, Tseng CF, Fu LS, Chi CS (2004) Denys–Drash syndrome. J Formos Med Assoc 103:71–74
21.
go back to reference Furtado LV, Pysher T, Opitz J, Lamb R, Comstock J, Batish S, Mauch T, Nelson R, Zhou H (2011) Denys–Drash syndrome with neonatal renal failure in monozygotic twins due to c.1097G > A mutation in the WT1 gene. Fetal Pediatr Pathol 30:266–272 Furtado LV, Pysher T, Opitz J, Lamb R, Comstock J, Batish S, Mauch T, Nelson R, Zhou H (2011) Denys–Drash syndrome with neonatal renal failure in monozygotic twins due to c.1097G > A mutation in the WT1 gene. Fetal Pediatr Pathol 30:266–272
22.
go back to reference Chernin G, Vega-Warner V, Schoeb DS, Heeringa SF, Ovunc B, Saisawat P, Cleper R, Ozaltin F, Hildebrandt F, Members of the GPN Study Group (2010) Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations. Clin J Am Soc Nephrol 5:1655–1662CrossRefPubMedPubMedCentral Chernin G, Vega-Warner V, Schoeb DS, Heeringa SF, Ovunc B, Saisawat P, Cleper R, Ozaltin F, Hildebrandt F, Members of the GPN Study Group (2010) Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations. Clin J Am Soc Nephrol 5:1655–1662CrossRefPubMedPubMedCentral
23.
go back to reference Machuca E, Benoit G, Nevo F, Tête M-J, Gribouval O, Pawtowski A, Brandström P, Loirat C, Niaudet P, Gubler M-C, Antignac C (2010) Genotype–phenotype correlations in non-finnish congenital nephrotic syndrome. J Am Soc Nephrol 21:1209–1217CrossRefPubMedPubMedCentral Machuca E, Benoit G, Nevo F, Tête M-J, Gribouval O, Pawtowski A, Brandström P, Loirat C, Niaudet P, Gubler M-C, Antignac C (2010) Genotype–phenotype correlations in non-finnish congenital nephrotic syndrome. J Am Soc Nephrol 21:1209–1217CrossRefPubMedPubMedCentral
24.
go back to reference Kikuchi H, Takata A, Akasaka Y, Fukuzawa R, Yoneyama H, Kurosawa Y, Honda M, Kamiyama Y, Hata J (1998) Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome? J Med Genet 35:45–48CrossRefPubMedPubMedCentral Kikuchi H, Takata A, Akasaka Y, Fukuzawa R, Yoneyama H, Kurosawa Y, Honda M, Kamiyama Y, Hata J (1998) Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome? J Med Genet 35:45–48CrossRefPubMedPubMedCentral
25.
go back to reference Lipska BS, Ranchin B, Iatropoulos P, Gellermann J, Melk A, Ozaltin F, Caridi G, Seeman T, Tory K, Jankauskiene A, Zurowska A, Szczepanska M, Wasilewska A, Harambat J, Trautmann A, Peco-Antic A, Borzecka H, Moczulska A, Saeed B, Bogdanovic R, Kalyoncu M, Simkova E, Erdogan O, Vrljicak K, Teixeira A, Azocar M, Schaefer F, PodoNet Consortium (2014) Genotype-phenotype associations in WT1 glomerulopathy. Kidney Int 85:1169–1178CrossRefPubMed Lipska BS, Ranchin B, Iatropoulos P, Gellermann J, Melk A, Ozaltin F, Caridi G, Seeman T, Tory K, Jankauskiene A, Zurowska A, Szczepanska M, Wasilewska A, Harambat J, Trautmann A, Peco-Antic A, Borzecka H, Moczulska A, Saeed B, Bogdanovic R, Kalyoncu M, Simkova E, Erdogan O, Vrljicak K, Teixeira A, Azocar M, Schaefer F, PodoNet Consortium (2014) Genotype-phenotype associations in WT1 glomerulopathy. Kidney Int 85:1169–1178CrossRefPubMed
26.
go back to reference Suri M, Kelehan P, O’Neill D, Vadeyar S, Grant J, Ahmed SF, Tolmie J, McCann E, Lam W, Smith S, FitzPatrick D, Hastie ND, Reardon W (2007) WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations. Am J Med Genet Part A 143A:2312–2320CrossRefPubMed Suri M, Kelehan P, O’Neill D, Vadeyar S, Grant J, Ahmed SF, Tolmie J, McCann E, Lam W, Smith S, FitzPatrick D, Hastie ND, Reardon W (2007) WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations. Am J Med Genet Part A 143A:2312–2320CrossRefPubMed
27.
go back to reference Cil O, Besbas N, Duzova A, Topaloglu R, Peco-Antić A, Korkmaz E, Ozaltin F (2015) Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome. Pediatr Nephrol 30:1279–1287CrossRefPubMed Cil O, Besbas N, Duzova A, Topaloglu R, Peco-Antić A, Korkmaz E, Ozaltin F (2015) Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome. Pediatr Nephrol 30:1279–1287CrossRefPubMed
Metadata
Title
Renal failure from birth—AKI or CKD? Answers
Authors
Sean Carter
Abhijit Dixit
Andrew Lunn
Anjum Deorukhkar
Martin Christian
Publication date
01-12-2016
Publisher
Springer Berlin Heidelberg
Published in
Pediatric Nephrology / Issue 12/2016
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI
https://doi.org/10.1007/s00467-016-3332-6

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