Abstract
- Turner syndrome is usually accompanied with various anomalies. Congenital urological and renal abnormalities are often associated with this syndrome. The occurrence of glomerulonephritis is uncommon. An 18-year-old woman showed fatigue and profound proteinuria. She had been diagnosed with Turner syndrome in her age of 15. The kidney biopsy specimen examined by light microscopy, immunofluorescence and electron microscopic examination revealed focal segmental glomerulosclerosis. This is the first case report of focal segmental glomerulosclerosis in turner syndrome in South Korea.
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Keywords: Focal Segmental; Glomerulosclerosis; Proteinuria; Turner syndrome
Figure 1.Jone-silver stain reveals segmental sclerosis in two glomeruli and tubular atrophy and interstitial foam cells(A, x200). Electron microscopy displays diffuse effacement of foot processes. There is no electron dense material deposit(B).
Table 1.Six cases of Turner syndrome with glomerulonephritis
No |
Year |
Karyotype |
Age (y) |
Presenting symptoms |
Serum Cr (mg/dL) |
Serum albumin (g/dL) |
Proteinuria (g/day) |
Diagnosis |
Renal recovery |
Reference |
1 |
1982 |
46X, del(X) (p 11) |
12 |
Hematuria, Pyuria |
0.5 |
3.5 |
1.58 |
MPGN |
no |
4 |
2 |
1989 |
46XY/ 45, X |
18 |
Amenorrhea, Edema |
0.4 |
2.6 |
9.6 |
FSGS |
no |
5 |
3 |
1998 |
45, X |
14 |
Proteinuria, Hematuria |
1.1 |
4.8 |
1.205 |
FSGS |
no |
6 |
4 |
2004 |
– |
13 |
Proteinuria, Arthralgia |
0.3 |
3.7 |
2.3 |
MN |
yes |
7 |
5 |
2013 |
45, X |
11 |
Proteinuria, Hematuria |
normal |
|
|
MN |
yes |
8 |
6 |
2014 |
46, X, der(X) del(X)(p10) del(X)(q25) |
18 |
Proteinuria, Fatigue |
0.81 |
3.7 |
3.6 |
FSGS |
yes |
|
References
- 1. Elsheikh M, Dunger DB, Conway GS, Wass JA. Turner's syndrome in adulthood. Endocr Rev 2002;23:120–40.ArticlePubMed
- 2. Sybert VP, Mccauley E. Turner's syndrome. N Engl J med 2004;351:1227–38.ArticlePubMed
- 3. Jang GC, Shin HJ, Kim DH. Clinical manifestations according to karyotype in Turner syndrome. J Korean Soc Pediatr Endocrinol 2000;5:163–70.
- 4. Goodyer PR, Fong JS, Kaplan BS, Milner LS, Lotan D, Mills M. Turner's syndrome, 46X, delX(P11), Persistent complement activation and membranopro-liferative glomerulonephritis. Am J Nephrol 1982;2:272–5.ArticlePubMed
- 5. Chan PC, Cheng IK, Chan MK. FSGS and mosaic Turner's syndrome. Clin Nephrol 1989;32:149–50.
- 6. Wattad A, Jain J, Kerrigan J, Youngberg G. FSGS and Turner's syndrome. Nephron 1998;80:106.ArticlePubMedPDF
- 7. Suzuki K, Tanaka H, Ito E, Waga S. Therapy-related membranous nephropathy in juvenile idiopathic arthritis with Turner syndrome. Pediatr Int 2004;46:377–9.ArticlePubMed
- 8. Nakamura S, Koshino H, Kon S, Soeda Y, Iwanami N, Ohtsu S, et al. Membranous nephropathy occurred in a patient with Turner's syndrome during rhGH treatment. Kitasato Med J 2013;43:79–81.
- 9. Deegens JK, Dijkman HB, Borm GF, Steenbergen EJ, van den Berg JG, Weening JJ, et al. Podocyte foot process effacement as a diagnostic tool in focal segmental glomerulosclerosis. Kidney Int 2008;74:1568–76.ArticlePubMed
- 10. McKusick VA. The anatomy of the human genome. Hosp Pract(Hosp Ed) 1981;16:82–100.ArticlePubMed
- 11. Praga M, Morales E, Herrero JC, Perez CA, Dominguez GB, Alegre R, et al. Absence of hypoalbuminemia despite massive proteinuria in focal segmental glomerulosclerosis secondary to hyper-filtration. Am J Kidney Dis 1999;33:52–8.ArticlePubMed
Citations
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- Renal Problems in Early Adult Patients with Turner Syndrome
Dong Uk Yu, Jae Kyun Ku, Woo Yeong Chung
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