Podocin mutations in a patient with congenital nephrotic syndrome and cardiac malformation

Pediatrics International

Volumn 50, Issue 6, 2008, Pages 828-830

  Sönmez, Ferah ^a   Mir, Sevgi ^b   Berdeli, Afig ^b   Aydoǧdu, Süleyman A ^a   Altincik, Ayça ^a  

^a ADNAN MENDERES UNIVERSITY   (Turkey)

^b EGE UNIVERSITY   (Turkey)

Author keywords

Cardiac malformation; Congenital nephrotic syndrome; Focal segmental glomerulosclerosis; NPHS2; Podocin mutation

Indexed keywords

CALCITRIOL; CALCIUM CARBONATE; CAPTOPRIL; ERYTHROPOIETIN; LOSARTAN; NIFEDIPINE; PODOCIN;

ANAMNESIS; ARTICLE; BONE DISEASE; CASE REPORT; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; CONGENITAL NEPHROTIC SYNDROME; FAMILY HISTORY; FOCAL GLOMERULOSCLEROSIS; FOLLOW UP; GENE MUTATION; HOSPITAL ADMISSION; HUMAN; HUMAN TISSUE; HYPERTENSION; KIDNEY BIOPSY; LABORATORY TEST; MALE; PEDIGREE; PERITONEAL DIALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEINURIA;

CONSANGUINITY; EXONS; GENETIC MARKERS; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MEMBRANE PROTEINS; MUTATION, MISSENSE; NEPHROTIC SYNDROME; PEDIGREE; PERITONEAL DIALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROGNOSIS; URINARY TRACT;

EID: 56549087569     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/j.1442-200X.2008.02744.x     Document Type: Article

References (16)

1. Ozer EA, Aksu N, Erdoǧan H et al. A novel NPHS2 gene mutation in Turkish children with familial steroid-resistant nephrotic syndrome. Nephrology 2004 9 : 310 12.
2. Sako M, Nakanishi K, Obana M et al. Analysis of NPHS1, NPHS2, ACTN4 and WT1 in Japanese patients with congenital nephrotic syndrome. Kidney Int. 2005 67 : 1248 55.
3. Ruf RG, Lichtenberger A, Karle SM, Haas JP, Anacleto FE. Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. J. Am. Soc. Nephrol. 2004 15 : 722 32.
4. Yu Z, Ding J, Guan N et al. A novel mutation of NPHS2 identified in a Chinese family. Pediatr. Nephrol. 2004 19 : 1285 89.
5. Komatsuda A, Wakui H, Maki N et al. Analysis of mutations in alpha-actinin 4 and podocin genes of patients with chronic renal failure due to sporadic focal segmental glomerulosclerosis. Ren. Fail. 2003 25 : 87 93.
6. Roselli S, Moutkine I, Gribouval O, Benmerah A, Antignac C. Plasma membrane targeting of podocin through the classical exocytic pathway: Effect of NPHS2 mutations. Traffic 2004 5 : 37 44.
7. Huber TB, Simons M, Hartleben B et al. Molecular basis of the functional podocin-nephrin complex: Mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains. Hum. Mol. Genet. 2003 15 : 3397 405.
8. Fournier A, Paget M, Pauli A, Devin P Familial nephrotic syndromes. Nephrotic syndrome associated with congenital cardiopathy in 4 sisters). Pediatrie 1963 18 : 677 85.
9. Grech V, Chan MKH, Vella C, Attard Montalto S, Rees P, Trompeter RS. Cardiac malformations associated with the congenital nephrotic syndrome. Pediatr. Nephrol. 2000 14 : 1115 17.
10. Frishberg Y, Feinstein S, Rinat C et al. The heart of children with steroid-resistant nephrotic syndrome: Is it all podocin? J. Am. Soc. Nephrol. 2006 17 : 227 31.
11. Boute N, Gribouval O, Roselli S et al. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat. Genet. 2000 24 : 349 54.
12. Caridi G, Berdeli A, Dagnino M et al. Infantile steroid-resistant nephrotic syndrome associated with double homozygous mutations of podocin. Am. J. Kidney Dis. 2004 43 : 727 32.
13. Weber S, Gribouval O, Esquivel EL et al. NPHS2 gene analysis shows genetic heterogeneity of steroid resistant nephrotic syndrome and low post-transplant recurrence. Kidney Int. 2004 66 : 571 9.
14. Koziell A, Grech V, Hussain S et al. Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. Hum. Mol. Genet. 2002 11 : 379 88.
15. Nitschke R, Henger A, Ricken S et al. Angiotensin II increases the intracellular calcium activity in podocytes of the intact glomerulus. Kidney Int. 2000 57 : 41 9.
16. Bertelli R, Ginevri F, Caridi G et al. Recurrence of focal segmental glomerulosclerosis after renal transplantation in patients with mutations of podocin. Am. J. Kidney Dis. 2003 41 : 1314 21.