Classical pediatric Bartter syndrome with low set ears. Pediatric Nephrology

      Аннотация: There is no curative therapy for many of the rare genetic disorders such as Bartter syndrome. Many patients with such disorders will be treated to a large extent with symptomatic therapies, and many of them will continue to have some symptoms, and growth and mental retardation despite the traditional therapies generally known by the treating physician. The occurrence of a rare genetic disorder “Bartter syndrome” in Iraq has not been documented. In addition to providing the historical documentation of this syndrome, particularly the early history of its documentation, this book describes the occurrence of a unique case of classical pediatric Bartter syndrome associated with low set ears and mental retardation in an Iraqi patient. The patient was treated before referral by some of the traditional therapies that improved her symptoms and condition, but she experienced some side effects of treatment and growth and mental retardation. Literature review helped in recommending an evidence-based opinion suggesting the replacement of one drug with a safer one, and the addition of an other evidence-based effective therapy.

Ключевые слова: genetics, Bartter syndrome, pediatrics, Iraq, Low set ears