A complex microdeletion 17q12 phenotype in a patient with recurrent de novo membranous nephropathy.

BMC Nephrology
Bernward HinkesJohannes Jacobi

Abstract

Microdeletions on chromosome 17q12 cause of diverse spectrum of disorders and have only recently been identified as a rare cause of Mayer-Rokitansky-Kuester-Hauser-Syndrome (MRKH), which is characterized by uterus aplasia ± partial/complete vaginal aplasia in females with a regular karyotype. For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder. Repeatedly she suffered from kidney transplant failure caused by consuming membranous nephropathy. A 38-year-old female patient had been diagnosed with right kidney aplasia, left kidney dysplasia and significantly impaired renal function during infancy. Aged 16 she had to start hemodialysis. Three years later she received her first kidney transplant. Only then she was diagnosed with MRKH. The kidney transplant was lost due to consuming nephrotic syndrome caused by de novo membranous nephropathy, as was a second kidney transplant years later. In addition, a hyperelasticity syndrome affects the patient with congenital joint laxity, kyphoscoliosis, bilateral hip dysplasia, persistent hypermobility of both elbows, knees and hips. Her clinical picture resembles a combination of traits of a hype...Continue Reading

References

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Citations

Jul 6, 2014·Case Reports in Genetics·Jennifer L RobertsMerlin G Butler
Nov 26, 2015·Indian Journal of Psychiatry·Roshan BhadPrashant Goyal
Sep 27, 2014·American Journal of Medical Genetics. Part a·Fabiola Quintero-RiveraKatrina M Dipple
Jul 14, 2016·American Journal of Medical Genetics. Part a·Maria RasmussenLone Sunde
Oct 8, 2016·Clinical Genetics·L FontanaM Miozzo
Jul 23, 2018·The Journal of Clinical Endocrinology and Metabolism·Natascha RoehlenKatharina Laubner
Aug 21, 2020·Orphanet Journal of Rare Diseases·Morten Krogh HerlinMats Brännström
Jun 24, 2021·Disease Models & Mechanisms·Laura Santana GonzálezAhmed Ashour Ahmed
Jun 14, 2021·Journal of Pediatric and Adolescent Gynecology·E P A Brander, J E Dietrich

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Methods Mentioned

BETA
biopsy
bilateral hip dysplasia
electron microscopy
light microscopy

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