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Saudi Journal of Kidney Diseases and Transplantation
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Year : 2012  |  Volume : 23  |  Issue : 4  |  Page : 834-835
Pregnancy desire unmasks a MYH9 syndrome in a kidney transplant woman

1 Nephrology and Dialysis Unit, Civitanova Marche Hospital, Rome, Italy
2 Hematology Unit, S. Eugenio Hospital, Rome, Italy

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Date of Web Publication9-Jul-2012

How to cite this article:
Vischini G, Farneti F, Niscola P, Stefoni A. Pregnancy desire unmasks a MYH9 syndrome in a kidney transplant woman. Saudi J Kidney Dis Transpl 2012;23:834-5

How to cite this URL:
Vischini G, Farneti F, Niscola P, Stefoni A. Pregnancy desire unmasks a MYH9 syndrome in a kidney transplant woman. Saudi J Kidney Dis Transpl [serial online] 2012 [cited 2020 Dec 3];23:834-5. Available from: https://www.sjkdt.org/text.asp?2012/23/4/834/98175
To the Editor,

MYH9-syndrome is a rare autosomal-domi­nant disorder deriving from mutation of the gene for the heavy chain of non-muscle myosin IIA. All patients present with macrothrombocytopenia, and many of them subsequently develop hearing loss, cataract and/or a nephropathy, caused by podocyte malfunction, which progresses to end-stage renal disease (ESRD) and is often misdiagnosed as Alport's syn­drome or its clinical variants. Many cases are classified as May Hegglin abnormally, Sebas­tian syndrome, Fechtner syndrome or Epstein syndrome depending on their clinical manifes­tations at diagnosis. [1] Sometimes, the diagnosis is made only in the adulthood as in a case re­cently observed by us. We report a case of a kidney transplant of a Caucasian woman affec­ted by ESRD who was discovered to be affected with MYH9-syndrome while planning for pregnancy.

A 32-year-old Caucasian woman with ESRD, who was being managed by ambulatory peri­toneal dialysis, was referred to our hospital to continue her renal replacement therapy and to re-enter in the transplant list. Her past clinical history started in 1993, after the onset of neuro-sensory hearing loss, micro-hematuria, proteinuria and asymptomatic macro-thrombocytopenia. She was not subjected to renal biopsy because of the risk of bleeding. A clinical diagnosis of Epstein syndrome was made then. In 1994, she was started on perito­neal dialysis that was often complicated by peritoneal bleeding. Because of persistent thrombocytopenia and lymphocytopenia, she underwent a bone marrow trephine biopsy that excluded any hematological disorders. In 1997, she had been submitted to a unrelated donor kidney transplantation followed by a hyper-acute graft rejection after 20 days. Therefore, after surgical removal of the donor transplant kidney, peritoneal dialysis was re­started and maintained until 2001. In 1998, she was affected by acute infective pericarditis and in 1999, she underwent peritoneal catheter subs­titution for resistant exit site and peritoneal infections. In 2001, she underwent a second kidney transplant. In 2008, the patient was asked to stop anti-rejection therapy because of her desire of planning a pregnancy but the medical staff suggested her to maintain it. A genetic study performed at this time revealed that she had MYH9 syndrome. There was no history of such cases in her family and no other genetic pathologies were detected. Never­theless, because of the likelihood of newborn transmission, she decided not to have the pregnancy. At present, her renal function is conserved (serum creatinine 0.9 mg/dL, urea 31 mg/dL) and platelets counts are between 15000/mm 3 and 10000/mm 3 , with an average lymphocytopenia of 500/mm 3 . Myh9-related disorders are a rare but impor­tant cause of chronic kidney disease in adulthood; the disease usually presents with a macro-thrombocytopenia in childhood. This condition should be considered as a differential diag­nosis of Alport's syndrome as the clinical fea­tures are somewhat similar. The real mecha­nism of kidney disease and other features related to the sequence variations of MYH9 gene are unknown. Recent discoveries have linked sequence variation in or near the MYH9 gene to an excess risk of Chronic Kidney Disease in African Americans [2] in whom kidney diseases hit especially hard, with rates up to four-times higher than that found in European Americans. Nevertheless, only some patients with the MYH9 kidney risk variant develop clinical kidney disease in their lifetime. It is likely that additional genes, probably involved in the resistance to infection by Trypanosoma brucei, [3] and/or other environmental factors in­teract with the MYH9 kidney risk variant to trigger glomerular injury. [4] Ongoing research should provide us the potential role of MYH9 screening in prevention and management of its related disorders. Our case has been presented for its rarity and because of the importance of recognizing this potentially devastating condi­tion in adult patients. Suspected cases should have genetic and reproductive medicine con­sultation. It is important for clinicians, espe­cially nephrologists, to keep maximal attention to make the correct diagnosis in the preclinical state itself.

   References Top

1.Singh N, Nainani N, Arora P, Venuto RC. CKD in MYH9-related disorders. Am J Kidney Dis 2009;54:732-40.  Back to cited text no. 1
2.Genovese G, Tonna SJ, Knob AU, et al. A risk allele for focal segmental glomerulosclerosis in African Americans is located within a region containing APOL1 and MYH9. Kidney Int 2010;78:698-704.  Back to cited text no. 2
3.Available from: http://www.nih.gov/research matters (Last cited on 2010/12/2).  Back to cited text no. 3
4.Kopp JB, Winkler CA, Nelson GW. MYH9 genetic variants associated with glomerular disease: what is the role for genetic testing? Semin Nephrol 2010;30:409-17.  Back to cited text no. 4

Correspondence Address:
Gisella Vischini
Nephrology and Dialysis Unit, Civitanova Marche Hospital, Rome
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DOI: 10.4103/1319-2442.98175

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