Rita Lombaerts

Cholestatic liver disease in long-term infantile nephropathic cystinosis.

Background:  Cystinosis is a metabolic disease characterized by accumulation of cystine in different organs and tissues, leading to potentially life‐threatening organ dysfunction. Infantile cystinosis typically leads to end‐stage renal disease, necessitating renal replacement therapy. Liver disease in cystinosis is rare and is mostly reported as nodular regenerative hyperplasia leading to portal hypertension.

The use and rationale of selective alpha blockade in children with non-neurogenic neurogenic bladder dysfunction

INTRODUCTION We present here a long-term observation of 2 children with a rare syndrome with a non-neurogenic neurogenic bladder dysfunction (Hinmans syndrome), and we investigated the safety and efficacy of long-term use of terazosine in association with prophylactic antibiotics, timed voiding and a bowel regimen. MATERIALS AND METHODS Two children, 7 years-old (22 kg) and 11 years-old (36 kg) presented in 1997 to our pediatric urology clinic with symptoms of urgency, frequency, urge incontinence and nocturnal enuresis. Both children were placed in a regimen of terazosine (starting with 0.5 mg increasing until 2 mg). RESULTS There were no significant side effects throughout the entire treatment. The first 7-year old boy however developed some dizziness when the dose of terazosine was increased to 2 mg (after 4 weeks of administrating 1 mg), and this disappeared immediately when the dosage was reduced back to 1 mg daily. The urgency symptoms improved in both boys after 3 weeks of 1 mg terazosine. The secondary enuresis in the 11 year-old boy resolved after 2 months of 2 mg terazosine. CONCLUSION It is possible to say that the alpha-blocker medication, terazosine can be administered safely to children with a non-neurogenic bladder dysfunction, also known as the Hinmans syndrome. These results have shown that dysfunctional voiding, postvoiding residual and upper tract involvement can disappear over time when long term terazosine is given in combination with timed voiding, prophylactic antibiotic therapy and treatment of the associated constipation. Our observations also suggest a permanent effect after discontinuing the medication.

Alpers syndrome presenting with anatomopathological features of fulminant autoimmune hepatitis

A 6-month-old girl with normal psychomotor development presented with fulminant hepatitis. Interestingly, liver biopsy demonstrated features of autoimmune hepatitis, whereas autoantibodies and raised immunoglobulin G (IgG) were absent. There was extensive centrolobular necrosis with bridging (Fig. 1a) and ductular reaction (Fig. 1b). There were numerous lymphocytes and plasmocytes (polyclonal on kappa and lambda stain) (Fig. 1c). Biochemical investigations excluded alternative causes of fulminant hepatitis. Steroid treatment was started, but the patient soon evolved to liver failure and received a liver transplantation. Three months posttransplant, the patient developed myoclonic and generalized tonic-clonic fits. Computed tomography (CT) scan, normal at presentation, revealed evolution toward severe brain atrophy. Mitochondrial assays on postmortem muscle biopsy revealed normal activity of respiratory chain complex II and decreased I, III, and IV activity. This is indicative of mitochondrial DNA (mtDNA) depletion in this clinical setting (Hargreaves et al. 2002). DNA analysis revealed two known POLG mutations (p.Ala467Thr and p. Gly848Ser), diagnostic for Alpers syndrome. We show here for the first time that a mtDNA-depletion syndrome can present with the anatomopathological features of autoimmune hepatitis. Alpers syndrome therefore should not be excluded from the differential diagnostic list based on these features. Whether this is also the case in older children, or even adults, presenting with cryptogenic acute liver failure and pathological features of autoimmune hepatitis remains to be determined.

Living Donor Kidney Transplantation: Analysis of the First 40 Cases Performed in UZ Leuven

Abstract Living donation kidney transplantation has been popular worldwide to try to increase the donor pool. In Belgium, the rate of living donation kidney transplantation has been traditionally relatively low compared to other countries. This is - in part - due to the relatively higher cadaveric organ offer that is available in Belgium (around 25 donors per million inhabitants), compared to other countries. However, the increasing waiting times on cadaveric waiting list and the superiority of the results of live donation versus cadaveric kidney transplantation have led to a reappraisal of this strategy. In our center a living donation kidney transplant programme was started in 1997. Since then 40 cases of live donation kidney transplantation have been performed and are reported herein.