Mir Reza Bekheirnia, MD
I am a clinical and a clinical molecular geneticist who sees both pediatric and adult patients. As a geneticist my clinical interests include care of individuals with developmental delay, intellectual disability, seizure, cardiovascular diseases, connective tissue disorders, hereditary cancers and birth defects. I have a specific clinical interest in diagnosis and management of the diseases and anomalies of the kidney and genitourinary tract. To this end, I started a Renal Genetics clinic in Texas Children’s Hospital. The scope of Renal Genetics clinic include: cystic kidney disease, hematuria (e.g. Alport syndrome), hereditary forms of kidney stone, syndromic and familial forms of kidney and urinary tract malformations, nephrotic syndrome, Fabry disease and a number of other hereditary kidney diseases. In Renal Genetics clinic, we aim to provide the most accurate diagnoses for the patients and their family members which will help with different aspects of clinical management. We often need to evaluate and monitor other organs beyond kidney with imaging methods like MRI, ultrasound or echocardiogram, when indicated. Although, there is not yet a cure for most of the genetic disorders, there are therapeutic measures that can be done if we know the right diagnosis. As an example, it is important to know the underlying cause of cystic kidney disease. There are more than 80 genes known to be related to cystic kidney. For the most common type (ADPKD), medications can be started early which may delay the adverse consequences of cystic kidney disease. In addition, involvement of other organs can be caught early and a more accurate outcome prediction and counseling can be performed. I believe in delivering the best possible care to my patients and their family members with utilization of the most advanced diagnostic and therapeutic approaches. In addition to my clinical practice, I also conduct medical research involving kidney and genitourinary disorders. Specifically, I am interested in identification of new genes (and their mechanism) involved in Congenital Anomalies of Kidney and Urinary Tract (CAKUT). CAKUT is a leading cause of end stage renal disease (ESRD) in children, accounting for 50% of such cases in the pediatric population. The complications from CAKUT can continue into adulthood. Identification of new genes allows better diagnosis, prevention, and counseling of the patients. This contributes to clearer understanding of the mechanism of CAKUT as well as normal kidney and urinary tract development. As a result, new therapeutic approaches can be designed.
• Congenital anomalies of the kidney and urinary tract
• Nephrotic syndrome
• Hereditary nephropathy
• Genetics of CAKUT (Congenital anomalies of the kidney and urinary tract)
• Genetics of Nephrotic syndrome
• Genetics of Alport syndrome
Alge JL, Wenderfer SE, Hicks J, Bekheirnia MR, Schady DA, Kain JS, Braun MC. Hemolytic uremic syndrome as the presenting manifestation of WT1 mutation and Denys-Drash syndrome: a case report. BMC Nephrology 18(1):243. PubMed: PMC5516385, 2017.
Bekheirnia MR, Bekheirnia N, Wenderfer SE, Eng C, Braun MC, Lupski JR, Lamb DJ, et al. Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. Genetic Medicine 19(4):412-20, PubMed: PMC5362362, 2016.
Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Bekheirnia MR, et al. Molecular findings among patients referred for clinical whole-exome sequencing. Journal of the American Medical Association 312(18):1870-9, PubMed: PMC4326249, 2014.
Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Bekheirnia MR, et al. Outcomes from implementation of clinical whole exome sequencing for the molecular diagnosis of Mendelian disorders. New England Journal of Medicine 369(16):1502-11, PubMed: PMC4211433, 2013.
Bekheirnia MR, Reed B, Gregory MC, McFann K, Shamshirsaz AA, Masoumi A, Schrier RW. Genotype-phenotype correlation in X-linked Alport syndrome. Journal of the American Society of Nephrology 21(5):876-83, PubMed: PMC2865738, 2010.
* Texas Children's Hospital physicians' licenses and credentials are reviewed prior to practicing at any of our facilities. Sections titled From the Doctor, Professional Organizations and Publications were provided by the physician's office and were not verified by Texas Children's Hospital.