Barakat syndrome is an inherited condition characterized by hypoparathyroidism, sensorineural hearing loss, and renal (kidney) disease. Most cases have been attributed to a mutation on chromosome 10p which affects the GATA3 gene.[9] Inheritance is likely autosomal dominant. Treatment is symptomatic and supportive.[10][11][12][13]
Publications
Books
Barakat, Amin Y; et al. (1986). The Kidney in Genetic Disease. Edinburgh: Churchill Livingstone. ISBN0-443-02104-X.
Barakat, Amin Y. (1990). Renal Disease in Children: Clinical Evaluation and Diagnosis. Berlin: Springer-Verlag. ISBN0-387-97036-3.
Amin J. Barakat and Russell W. Chesney, ed. (2009). Pediatric Nephrology for Primary Care. Amer Academy of Pediatrics. ISBN978-1-58110-297-0.
Amin J Barakat and H. Gil Rushton, editors. Congenital Anomalies of the Kidney and Urinary Tract: Clinical Implications in Children. Switzerland, Springer, 2016. ISBN978-3-319-29217-5
"Hypokalemic Alkalosis, Hyperreninemia, Aldosteronism, Normal Blood Pressure and Normal Juxtaglomerular Apparatus : A New Syndrome of Renal Alkalosis", International Journal of Pediatric Nephrology 7: 99, 1986.
"Renal and Urinary Tract Abnormalities Associated with Chromosome Aberrations", International Journal of Pediatric Nephrology 8: 215, 1987.
"Townes-Brocks Syndrome: Report of Three Additional Patients with Previously Undescribed Renal and Cardiac Abnormalities", Dysmorphology and Clinical Genetics 2: 104, 1988.
"Antenatal Diagnosis of Renal Abnormalities: A Review of the State of the Art", Journal of the Southern Medical Association 82: 229, 1989.
"The Association of Congenital Abnormalities of the Kidney and Urinary Tract with Those of Other Organ Systems in 13,775 Autopsies", Child Nephrology and Urology 9: 269, 1989.
"An Infant with Deletion of the Distal Long Arm of Chromosome 15 (q26.1----qter) and Loss of Insulin-like Growth Factor 1 Receptor Gene", American Journal of Medical Genetics, May 1991.
"Reliability of Ultrasound in the Prenatal Diagnosis of Urinary Tract Abnormalities", Pediatric Nephrology (Berlin, Germany), June 1991.
"Occurrence of Congenital Abnormalities of Kidney and Urinary Tract in 13,775 Autopsies", Urology, Jan. 1992.
"Kidney Abnormalities in Hajdu-Cheney Syndrome", Pediatric Nephrology (Berlin, Germany), March 1997.
"Kidney Disease: Jade, Dialysis or Transplantation?" (editorial), Le Journal Médical Libanais (The Lebanese Medical Journal), Sept. 1997.
"Renal Disease in Lebanese Children and Adolescents: Findings in 118 Consecutive Percutaneous Renal Biopsies", Le Journal Médical Libanais (The Lebanese Medical Journal), June 1999.
"Gitelman's Syndrome (Familial Hypokalemia-Hypomagnesemia)", Journal of Nephrology, June 2001.
Barakat AJ: Presentation of renal disease in children. Pediatr Ann 42: 40, 2013.
Barakat AJ: Editorial: Pediatric Nephrology. Pediatr Ann 42: 106, 2013.
Barakat AJ: Editor. Special Issue on Pediatric Nephrology. Pediatr Ann 42, 2013.
Barakat AJ: Nephrology in the pediatric office. 7th congress of Nephrology in Internet. CIN, 2013.
Barakat AJ: Prevention of kidney disease in children. 7th congress of Nephrology in Internet. CIN, 2013.
Barakat AJ: Barakat syndrome. NORD (National Organization of Rare Disorders), 2015.
Barakat AJ: Editor. Special Issue: Pediatric Nephrology: An Update. The Open Urology
Nephrology Journal 8, 2015. Special Issue on Pediatric Nephrology
Barakat AJ: Editorial. Pediatric Nephrology: An Update. The Open Urology & Nephrology Journal 8: 90, 201576.
Barakat AJ, Raygada M, Rennert OM. Barakat syndrome revisited. Am J Med Genet Part A. 2018; Barakat syndrome revisited
Barakat AJ. Renal Disease: Clinical Presentation in Children. Ann Pediatr Res. 2021; 5 (1): 1054.
Barakat AJ, Zalzal H. Characteristics of Hearing Loss in the Barakat Syndrome. Ann Pediatr Res. 2020; 4 (5): 1051.
Barakat AJ. Association of congenital anomalies of the kidney and urinary tract with those of other organ systems: clinical implications. Nephrol Renal Dis, 2020; 5(4):1-4.
Barakat AJ, Evans C, Gill M, Nelson D. Rapid strep testing in children with recently treated streptococcal pharyngitis. Pediatr Invest. 2019: 3 (1): 27-30.
^"Hypoparathyroidism, Sensorineural Deafness and Renal Disease", listed in McKusick V. Mendalian, Inheritance in Man, 12th edition, volume 2, Baltimore: The Johns Hopkins University Press, 1998. MIM ID # 146255
^Rimoin, D.L., J.M. Connor, R.E. Pyeritz, and B.R. Korf. Emery and Rimoin’s Principles and Practice of Medical Genetics, fourth edition, volume 2, London: Churchill Livingstone, 2002, p. 2217.
^Ranjbar-Omrani, Gholamhossein, Nima Zamiri, Behnam Sabayan, and Azam Mohammadzadeh. "Concomitant Hypoparathyroidism, Sensorineural Deafness, and Renal Agenesis: A Case of Barakat Syndrome", Archives of Iranian Medicine, Volume 11, Number 3, 2008: 337–340
^"Success in America, But Heart is Here", Lebanon Daily Star, June 12, 2000