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A VERY RARE GENETIC DISEASE LAURENCE MOON BARDET BEIDLE SYNDROME AND SUBSTANDARD PHARMACEUTICAL CARE PROVISION TO THE PATIENT AND IMPROPER THERAPY AND MONITORING; A CASE REPORT

Huma Aslam Butt

Abstract


The Laurence moon Bardet Biedl syndrome is a very rare genetic disorder in which the recessive trait of gene is defected and yet need to be exploited for the purpose to provide better pharmaceutical care to such patients. It is characterized by the obesity, retinitis pigmentosa, polydactyly, mental retardation, hypogonadism and renal failure alongwith characters of  retinitis pigmentosa, spastic paraplegia, hypogonadism and mental retardation. [25] Pharmaceutical care is the direct, responsible provision of medication-related care for the purpose of achieving definite outcomes that improve a patient’s quality of life.[28] There is an enhanced need to have a comprehensive research to be done on the disease and its outcomes as there are chances of overlapping phenotypes of rarer disease as Laurence moon along with Bardet Biedl, that make the diagnosis difficult. The average age of the diagnosis is 9 years and at that stage it is difficult to stop the deteriorating effects that have already started. The first known case was reported by Laurence and Moon in 1866 at the Ophthalmic Hospital in South London. Laurence–Moon–Biedl–Bardet syndrome [26] 14 years old patient was being hospitalized complaining poor appetite, acidity, anemia and abdominal pain and muscle weakness and blindness since last 4 years. Upon examination was revealed to be a patient of Laurence Moon Bardet Beidle syndrome with renal failure, polydactyl and mild obesity and retinitis pigmentosa. The patient has been given Eprex (epoetin alfa) 2000 units twice weekly i.e. lower than the required and stated doses given in the official books. Moreover the route of administration selected was wrongly choosen as sub cutaneous as compared to intravenous route. Other medications include the omeprazole for gastric problems and lophos for treatment of hypocalcemia, which were in normal doses. But the substandard pharmaceutical care is resulting in sub standard therapy and in complete treatment regimen along with no monitoring of either electrolytes or other fluids resulting in treatment failure.


Keywords


; LMBB Syndrome, child, rare genetic disease, anemia, Sub standard clinical services, poor long term management, improper pharmaceutical care, treatment failure

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DOI: http://dx.doi.org/10.21065/19257430.74.2

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