Glomerular basement membrane lipidosis in Alagille syndrome

Pediatric Nephrology

Volumn 25, Issue 6, 2010, Pages 1181-1184

  Davis, Jessica ^a   Griffiths, Ryan ^b   Larkin, Kay ^a   Rozansky, David ^c   Troxell, Megan ^a  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

Alagille syndrome; Hepatorenal; JAG1; Mesangiolipidosis

Indexed keywords

ALKALINE PHOSPHATASE; BILIRUBIN; COMPLEMENT COMPONENT C3; CREATININE; JAGGED1; NOTCH2 RECEPTOR;

ALAGILLE SYNDROME; ARTICLE; CASE REPORT; CHILD; CHOLESTASIS; CREATININE URINE LEVEL; ELECTRON MICROSCOPY; FAMILY; FEMALE; FOCAL GLOMERULOSCLEROSIS; GASTROINTESTINAL DISEASE; GLOMERULUS BASEMENT MEMBRANE; HEART MURMUR; HEMATURIA; HUMAN; INTRAHEPATIC BILE DUCT; KIDNEY BIOPSY; KIDNEY CYST; KIDNEY FIBROSIS; KIDNEY TUBULE ACIDOSIS; LIPIDOSIS; LIVER BIOPSY; MEMBRANOUS GLOMERULONEPHRITIS; MESANGIUM; METABOLIC ACIDOSIS; MICROSCOPY; NEWBORN JAUNDICE; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PODOCYTE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN URINE LEVEL; PROTEINURIA; PULMONARY ARTERY STENOSIS; TRANSTHORACIC ECHOCARDIOGRAPHY;

ALAGILLE SYNDROME; CHILD, PRESCHOOL; FEMALE; GLOMERULAR BASEMENT MEMBRANE; HUMANS; LIPIDOSES; MICROSCOPY, ELECTRON, TRANSMISSION;

EID: 77951257525     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-009-1426-0     Document Type: Article

References (16)

1. D Alagille A Estrada M Hadchouel M Gautier M Odievre JP Dommergues 1987 Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases J Pediatr 110 2 195 200 10.1016/S0022-3476(87)80153-1 1:STN:280:DyaL2s7htF2ltQ%3D%3D 3806290 (Pubitemid 17016845)
2. KM Emerick EB Rand E Goldmuntz ID Krantz NB Spinner DA Piccoli 1999 Features of Alagille syndrome in 92 patients: frequency and relation to prognosis Hepatology 29 3 822 829 10.1002/hep.510290331 1:STN:280: DyaK1M7mt1ektg%3D%3D 10051485 (Pubitemid 29109597)
3. R McDaniell DM Warthen PA Sanchez-Lara A Pai ID Krantz DA Piccoli NB Spinner 2006 NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway Am J Hum Genet 79 1 169 173 10.1086/505332 1:CAS:528:DC%2BD28Xmt1entL0%3D 16773578 (Pubitemid 43927389)
4. DM Warthen EC Moore BM Kamath JJ Morrissette P Sanchez DA Piccoli ID Krantz NB Spinner 2006 Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate Hum Mutat 27 5 436 443 10.1002/humu.20310 1:CAS:528:DC%2BD28XkvFyltLY%3D 16575836 (Pubitemid 43673330)
5. L Li ID Krantz Y Deng A Genin AB Banta CC Collins M Qi BJ Trask WL Kuo J Cochran T Costa ME Pierpont EB Rand DA Piccoli L Hood NB Spinner 1997 Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1 Nat Genet 16 3 243 251 10.1038/ng0797-243 1:CAS:528:DyaK2sXktFCqsbc%3D 9207788 (Pubitemid 27280206)
6. B McCright 2003 Notch signaling in kidney development Curr Opin Nephrol Hypertens 12 1 5 10 10.1097/00041552-200301000-00002 1:CAS:528:DC%2BD2cXps1ek 12496659 (Pubitemid 36092308)
7. R Habib JP Dommergues MC Gubler M Hadchouel M Gautier M Odievre D Alagille 1987 Glomerular mesangiolipidosis in Alagille syndrome (arteriohepatic dysplasia) Pediatr Nephrol 1 3 455 464 10.1007/BF00849254 1:STN:280: DyaK3M%2Fislaitg%3D%3D 3153318 (Pubitemid 18016646)
8. PA Russo D Ellis Y Hashida 1987 Renal histopathology in Alagille's syndrome Pediatr Pathol 7 5-6 557 568 10.3109/15513818709161419 1:STN:280:DyaL1c3hslKquw%3D%3D 3329721 (Pubitemid 18088921)
9. SR Martin L Garel F Alvarez 1996 Alagille's syndrome associated with cystic renal disease Arch Dis Child 74 3 232 235 10.1136/adc.74.3.232 1:STN:280:DyaK283ks1agsQ%3D%3D 8787429 (Pubitemid 26093819)
10. H Hirai Y Santo S Kogaki S Kurotobi Y Etani S Mushiake Y Nakatsuchi S Nakajima K Ozono 2005 Successful stenting for renal artery stenosis in a patient with Alagille syndrome Pediatr Nephrol 20 6 831 833 10.1007/s00467-004-1774-8 15772839 (Pubitemid 40663175)
11. A Jacquet A Guiochon-Mantel LH Noel T Sqalli P Bedossa M Hadchouel JP Grunfeld F Fakhouri 2007 Alagille syndrome in adult patients: it is never too late Am J Kidney Dis 49 5 705 709 10.1053/j.ajkd.2007.02.262 17472854 (Pubitemid 46667193)
12. M Chung-Park M Petrelli AS Tavill PW Hall 3rd MS Henoch BB Dahms 1982 Renal lipidosis associated with arteriohepatic dysplasia (Alagille's syndrome) Clin Nephrol 18 6 314 320 1:STN:280:DyaL3s7gtlKquw%3D%3D 7151349 (Pubitemid 13202010)
13. IM Rosenthal MA Spellberg EA Mc Grew IH Rozenfeld 1961 Absence of interlobular bile ducts. Report of a case of probable intrahepatic bile duct agenesis with severe hypercholesterolemia, xanthomatosis, and glomerular lipid deposition Am J Dis Child 101 228 237 1:STN:280:DyaF3c%2FmtlWrtg%3D%3D 13743489
14. S Harendza CA Hubner C Glaser M Burdelski F Thaiss I Hansmann A Gal RA Stahl 2005 Renal failure and hypertension in Alagille syndrome with a novel JAG1 mutation J Nephrol 18 3 312 317 1:CAS:528:DC%2BD2MXhtVWqt7bF 16013021 (Pubitemid 41078952)
15. G Benoit H Sartelet E Levy ME Boule F Alvarez L Abed A Merouani 2007 Mesangiolipidosis in Alagille syndrome-relationship with apolipoprotein A-I Nephrol Dial Transplant 22 7 2072 2075 10.1093/ndt/gfm165 17452414 (Pubitemid 47248468)
16. T Faraggiana J Churg 1987 Renal lipidoses: a review Hum Pathol 18 7 661 679 10.1016/S0046-8177(87)80238-1 1:CAS:528:DyaL2sXltlWktb8%3D 3297993 (Pubitemid 17124614)