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Renal findings in patients with Mulibrey nanism.

Renal findings in patients with Mulibrey nanism.
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Sivunen J, Karlberg S, Lohi J, Karlberg N, Lipsanen-Nyman M, Jalanko H,


Sivunen J, Karlberg S, Lohi J, Karlberg N, Lipsanen-Nyman M, Jalanko H, (click to view)

Sivunen J, Karlberg S, Lohi J, Karlberg N, Lipsanen-Nyman M, Jalanko H,

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Pediatric nephrology (Berlin, Germany) 2017 04 22() doi 10.1007/s00467-017-3669-5
Abstract
BACKGROUND
Mulibrey nanism (MUL) is a rare inherited disease caused by genetic defects affecting peroxisomal TRIM37 protein. MUL affects multiple organs, leading to growth retardation and early onset type 2 diabetes. We aimed to characterize the structure and function of kidneys and the urinary tract in a large cohort of Finnish MUL patients.

METHODS
Ultrasound, magnetic resonance imaging (MRI), and autopsy findings of the kidneys and urinary tract from 101 MUL patients were retrospectively analyzed. Renal function was examined using blood and urine biochemistry. Kidney pathology was assessed by histology and immunohistochemistry from biopsy and autopsy samples.

RESULTS
Structural anomalies of the kidneys and urinary tract were found in 13 % of MUL patients and renal tumors and macroscopic cystic lesions in 14 % and 43 % respectively. Overall, kidney histology was well preserved, but glomerular cysts with a wide Bowman’s space were observed in most samples (87 %). Also, prominent and abundant blood vessels with thick walls were typically seen. Expression of endothelial cell markers and angiogenic growth factors PDGF-B and FGF1 (but not VEGF-A) was significantly increased in MUL kidneys. Markers of fibrosis and epithelial-mesenchymal transformation, α-SMA, and vimentin were moderately up-regulated. Despite radiological and histological changes, most MUL patients (age 0.2-51 years) had normal kidney function. However, 9 out of 36 patients (25 %) had hypertension and 6 out of 26 (23 %) had mildly decreased glomerular filtration.

CONCLUSIONS
Genetic defects in the TRIM37 gene lead to an increased risk for kidney anomalies, renal tumors, and solitary cysts in addition to glomerular cystic lesions, but not to progressive deterioration of renal function.

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