Buradasınız

İnfantlarda Sistemik Oksalozis: İki Olgu ve Literatürün Gözden Geçirilmesi

Systemic Oxalosis in Infants: Two Cases and Literature Review

Journal Name:

Publication Year:

DOI: 
10.5262/tndt.2013.1002.13
Abstract (2. Language): 
The infantile form of primary hyperoxaluria is a very rare disease and often presents as a lifethreatening condition because of rapid progression to end-stage renal disease and systemic oxalosis. We described two infants with primary hyperoxaluria type 1 (PH1). Persistent severe hyponatremia and hypoalbuminemia were noted in both patients and cerebral and pulmonary involvements of systemic oxalosis were suspected in one patient. Such a severe phenotype of infantile PH1 is an important fi nding that should be added to the list of manifestations of PH1.
Abstract (Original Language): 
Primer hiperoksalürinin infantil formu çok nadir bir hastalık olmakla birlikte hızla son dönem böbrek yetmezliğine ilerlemesi ve sistemik oksalozis nedeniyle sıklıkla hayatı tehdit eden bir durumdur. Biz primer hiperoksalüri tip I (PH1) tanılı iki olgu sunduk. Her iki olgunun dirençli hiponatremi ve hipoalbuminemisi, bir olgunun ise sistemik oksalozisin çok nadir tutulumları olan serebral ve pulmoner tutulumları görüldü. İnfantil PH1 in bu şiddetli tutulumları PH1 in bulgular listesine eklenmelidir.
206
211

REFERENCES

References: 

1. Cochat P, Liutkus A, Fargue S, Basmaison O, Ranchin B, Rolland
MO: Primary hyperoxaluria type 1: Still challenging. Pediatr
Nephrol 2006; 21: 1075-1081
2. Cochat P, Fargue S, Harambat J: Primary hyperoxaluria. In:
Avner ED, Harmon WE, Niaudet P, Yoshikawa N eds. Pediatric
Nephrology (6th ed). Berlin Heidelberg: Springer Verlag, 2009;
1069-1079
3. Monico CG, Persson M, Ford GC, Rumsby G, Milliner DS:
Potential mechanisms of marked hyperoxaluria not due to primary
hyperoxaluria I or II. Kidney Int 2002; 62: 392-400
4. Cochat P: Primary hyperoxaluria type 1. Kidney Int 1999; 55:
2533-2547
5. Hoppe B, Leumann E, Milliner DS: Urolithiasis and
Nephrocalcinosis in Childhood. In: Geary DF, Schaefer F (eds.),
Comprehensive Pediatric Nephrology, Philadelphia: Mosby
Elsevier, 2008: 511-520
6. Diallo O, Janssens F, Hall M, Avni EF: Type 1 primary hyperoxaluria
in pediatric patients: Renal sonographic patterns. AJR 2004; 183:
1767-17707. Cochat P, Koch Nogueira PC, Mahmoud MA, Jamieson NV,
Scheinman JI, Rolland MO: Primary hyperoxaluria in infants:
Medical, ethical and economic issues. J Pediatr 1999; 135: 746-750
8. Millan MT, Berquist WE, So SK, Sarwal MM, Wayman KI, Cox
KL, Filler G, Salvatierra O Jr, Esquivel CO: One hundred percent
patient and kidney allograft survival with simultaneous liver and
kidney transplantation in infants with primary hyperoxaluria: A
single-center experience. Transplantation 2003; 76: 1458-1463
9. Niaudet P: Primary hyperoxaluria. Orphanet encyclopedia. 2004
10. Tantbirojn P, Kittikowit W, Kingwattanakul P: Primary
Hyperoxaluria. J Med Assoc Thai 2007; 90: 1669-1672
11. Ring E, Wendler H, Ratschek M, Zobel G: Bone disease of primary
hyperoxaluria in infancy. Pediatr Radiol 1989; 20: 131-133
12. Fisher D, Hiller N, Drukker A: Oxalosis of bone: Report of four
cases and new radiological staging. Pediatr Radiol 1995; 25:
293-295
13. Magnani G, Fatone F, Martella D, Binetti G, Magnani B: A case of
oxalosis with heart and lung involvement. Cardiologia 1992; 37:
507-51114. Soylu A, Kavukçu S, Türkmen M, Yilmaz Ş, Yörükoğlu K: The
Diagnosis and follow-up in two brothers with primary hyperoxaluria.
Journal of the Turkish Nephrology Association 1999; 2: 87-90
15. Marangella M: Transplantation strategies in type 1 primary
hyperoxaluria: The issue of pyridoxine responsiveness. Nephrol
Dial Transplant 1999; 14: 301-303
16. Gagnadoux MF, Lacaille F, Niaudet P, Revillon Y, Jouvet P, Jan D,
Guest G, Charbit M, Broyer M: Long term results of liver-kidney
transplantation in children with primary hyperoxaluria. Pediatr
Nephrol 2001; 16: 946-950
17. Milliner DS: The primary hyperoxalurias: An algorithm for
diagnosis. Am J Nephrol 2005; 25: 154-160
18. Pirulli D, Marangella M, Amoroso A: Primary hyperoxaluria:
Genotype-phenotype correlation. J Nephrol 2003; 16: 297-309
19. Kavukçu S, Türkmen M, Soylu A, Kasap B, Oztürk Y, Karademir
S, Bora S, Astarcioğlu I, Gülay H: Combined liver-kidney
transplantation and follow-up in primary hyperoxaluria treatment:
Report of three cases. Transplant Proc 2008; 40(1): 316-319

Thank you for copying data from http://www.arastirmax.com