Biomedical subjects
Publications and source records attributed to C Akatcherian.
A case of hyperexplexia is reported in a newborn. Hyperexplexia or "startle disease" is very uncommon and is of autosomal dominant transmission. Clinical features consist in particular physical features during the neonatal period and subsequently in an abnormal startle reaction; the electromyogram shows particular patterns.
Percutaneous renal biopsy in children is a safe procedure. It is used for definitive diagnosis, prognosis and evaluation of the response to therapy. Repeated percutaneous biopsies are currently performed especially in allograft kidneys and in native kidneys as well. No major complications were noted in our series. The use of the new automated technique with small disposable needles in a well sedated child and experienced operator minimizes the complication rate. The important clinical benefit of the percutaneous renal biopsy overcomes the minimal risk of the procedure. Mesangiocapillary glomerulonephritis and focal segmental glomerulosclerosis are the predominant histological findings in our series. More data from other centers are necessary to evaluate the real incidence of the different entities of renal diseases in our country.
A retrospective study was conducted on all kidney transplantations performed between January 1993 and June 1996 in our multidisciplinary pediatric department. Thirteen children with a mean age of 6 years (3.5-12) were transplanted during the study period after an average waiting time of 2 years on dialysis for cadaveric transplants and 3.5 months for living related ones. No urologic complication was noted; however, intra-abdominal approach was decided to be performed only in children less than 9 kg. This decision was taken after the occurrence of one intestinal intussusception and two ileal obstructions. During these 3.5 years, five rejection episodes were treated: three were steroid responsive, two were resistant but responded respectively to plasmapheresis and to OKT3. The actuarial survival of the grafts and recipients were 100% for an average mean time of follow-up of 18 months. The latest serum creatinine and creatinine clearance averages were respectively 66 mumol/l and 105 ml/min/1.73 m2. In seven transplanted children for more than 18 months growth was satisfactory. Eleven children returned to school. Kidney transplantation is the optimal treatment for children and infants with chronic renal failure; however, this technique needs a highly experienced team and a permanent close follow-up. Some children with end stage renal disease can directly have preemptive transplantation which is becoming our recent choice to avoid the hemodialysis strain.
A retrospective study was conducted in June 1997 concerning all Lebanese children with end stage renal failure. This study was able to recognize 20 children and infants (age less than 15) dialysed regularly in 8 hemodialysis centers. The other 23 centers are not following children. Thirteen children are dialysed on bicarbonate and seven on acetate. Children receive erythropoietin occasionally; 30% of them are polytransfused, 60% of them suffer from anemia. Four children have never received immunization against hepatitis B and three are seropositive for hepatitis C. None of these children has regular school attendance and psychological support for the child and his family do not exist. We conclude that the situation of children on hemodialysis in Lebanon is alarming. Solutions are possible and available; they need to be undertaken urgently.
We report the case of a 10-year-old girl who received a cadaveric kidney transplant for oxalosis after a period of 12 months on hemodialysis. The donor was a 6-year-old child. Cold ischemia was four hours. Diuresis occurred immediately in the operating room. Mean daily diuresis was maintained at 8 liters: first by i.v. perfusion, then by nocturnal continuous nasogastric hydration. In addition to the usual immunosuppressive drugs, she received pyridoxine, sodium citrate, phosphate, hydrochlorothiazide and magnesium. Daily hemodialysis was performed from Day 1 to Day 9 and four additional sessions every other day. The postoperative course was satisfactory. Oxaluria was elevated initially at 1074 mg/24 h (normal < 50 mg/24 h). One year later, mean daily diuresis is still 8 liters, renal function is normal and oxaluria is at 296 mg/24 h. Repeated graft sonography showed no nephrocalcinosis, but mild oxalate deposits are noted on renal biopsy. Isolated renal transplantation was successful in our patient. It allowed us to stop hemodialysis and to avoid extra-renal accumulation of oxalate. Despite this success, we are convinced that long term prognosis is uncertain and liver transplantation should be realized to correct definitely the biochemical defect.
Familial lymphohistiocytosis is a rare rapidly lethal genetic disease. It is characterized by an uncontrolled activation of T lymphocytes and macrophages, with multiple organ infiltration, beginning with fever and unexplained coagulopathy. Recently, one of the genes implicated in 50% of families at risk was identified (locus FHL1, chromosome 10, region q21-22). Based on data suggesting an essential role of T lymphocytes in the genesis of familial lymphohistiocytosis, the treatment has recently evolved from a chemotherapy including Etoposide (VP16) and corticosteroids, sometimes efficient but toxic, to an almost always efficient and slightly toxic immunosuppressive treatment. These two treatments achieved a remission somewhat lasting with no definite cure. In fact, all patients relapsed in the central nervous system and died. Bone marrow transplantation (BMT) is the only curative treatment. However only 20% of patients benefit from an HLA identical BMT. Recent improvements in HLA non-identical BMT offer an acceptable alternative to the other 80% of patients. In this review, we present three cases illustrating the evolution and optimization in the management of infants with familial lymphohistiocytosis.
Vascular rejection in a transplanted child is frequently associated with bad prognosis on the short and long term. All therapeutic modalities available nowadays as monoclonal antibodies, intravenous cyclosporine or plasma exchange have given conflicting results. We report the case of a boy who was transplanted from his mother at the age of three. His primary disease was a cortico-resistant rapidly progressive glomerulonephritis; the immediate postoperative period was satisfactory but he developed a severe vascular rejection on day 5 post-transplantation, while on triple immunosuppression therapy associating antithymocyte globuline, prednisolone and azathioprine. Acute vascular rejection was corticoresistant but responded well to plasma exchange. In our patient, we believe that plasmapheresis was efficaceous on the reversibility of vascular rejection and moreover that he had not responded to corticotherapy even a week post methylprednisolone in the absence of any change in immunosuppression during plasmapheresis. No randomized study was realized until now to prove the efficacy of plasmapheresis in children with vascular rejection. The sporadic cases reported on the reversibility of such rejection after plasmapheresis, the innocuity of this therapy, if well performed in children, encourage us to consider this treatment modality in resistant vascular rejection.