İnsülin Bağımlı Diabetes Mellitus’lu ve Böbrek Yetersizliği Olan LMB Sendromu

Laurence-Moon-Biedl syndrome (LMBS) is a rare autosomal recessive disease which is characterized by obesity, mental retardation, retinitis pigmentosa, polydactyly and hypogonadism. Here in we discussed a patient with LMBS who had hypertension, diabetes mellitus and renal failure. A 31-year-old male patient with the history of hypertension, diabetes mellitus and blindness was admitted to our clinic because of rectal hemorrhage, respiratory distress and bilaterally lower extremity edema. Physical examination showed that blood pressure of 140/100 mmHg, BMI 30 kg/m2 , bilaterally lower extremity edema, pulmonary crackles, nistagmus, pigmentary retinopathy, mental retardation and internal hemorrhoid. Laboratory investigations were as follows; hematocrit 10.5%, glucose 242 mg/dl, S. albumin 3.1 g/dl, BUN 50 mg/dl, creatinine 3.4, Na 130 mEq/L, K 4.1 mEq/L and daily proteinuria 2.4 g. An abdomen ultrasonography and echocardiography revealed increased echogenity of kidneys and mitrale-aortic valve calcifications, left ventricle hypertrophy and EF 71%, respectively. Anemia due to rectal hemorrhage was corrected by blood transfusion. The patient is discharged from hospital with the treatment of furosemide 1x40 mg every other day, amlodipin 1x5 /mg/day, NPH insulin and oral Fe preparations. At the 15th year of the treatment, laboratory values were as follows; BUN 48 mg/dl, creatinine 4.2 mg/dl, S. albumin 3.8 mg/dl and daily proteinuria 2 g. Consequently, we presented a patient who has LMBS and insulin depended diabetes mellitus without family history. Hypertension and diabetes mellitus accompanying LMBS can aggravate renal failure. But, loss of creatinine clearance was only 0.2 ml/min per month in the 15 year-follow-up period. According to these results, even if the primary disease is such as congenital disease, loss of renal functions can be reduced with the better control of hypertension and diabetes mellitus.