A Case of Focal Segmental Glomerulosclerosis in Turner Syndrome

Article information

Kosin Med J. 2015;30(1):69-72

Publication date (electronic) : 2015 January 20

doi : https://doi.org/10.7180/kmj.2015.30.1.69

A Rum Han ¹, Young Ki Lee ¹^,, Hyun Yon Jung ¹, Jae Hyun Park ¹, Jung-Woo Noh ¹, Eun Suk Nam ²

¹Department of Internal Medicine, and Hallym Kidney Research Institute Hallym University College of Medicine, Seoul, Korea

²Department of Pathology, Hallym University College of Medicine, Seoul, Korea

Corresponding Author：Young Ki Lee, Department of Internal Medicine, Kangnam Sacred Heart Hospital, Hallym University, 1, Singil-ro, Yeongdeungpo-gu, Seoul, 150-950, Korea TEL: +82-2-829-5214 FAX: +82-2-846-4669 E-mail: km2071@unitel.co.kr

Received 2014 February 13; 2014 March 30; Accepted 2014 April 23.

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.

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

References

1. Elsheikh M, Dunger DB, Conway GS, Wass JA. Turner's syndrome in adulthood. Endocr Rev 2002;23:120–40.

2. Sybert VP, Mccauley E. Turner's syndrome. N Engl J med 2004;351:1227–38.

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.

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.

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.

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.

10. McKusick VA. The anatomy of the human genome. Hosp Pract(Hosp Ed) 1981;16:82–100.

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.

Article information Continued

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Figure 1.

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

MPGN, membranoproliferative glomerulonephritis; FSGS, focal segmental glomerulosclerosis; MN, membranous nephropathy.