Abstract
A 12 year-old boy was referred for pallor and general weakness for at least six months. Previously the child had been hospitalized at the age of five, for mental retardation and hepato (7cm)spleno(6cm)megaly. At that time, no explanation could be found for the first symptom, whereas all liver function tests gave normal results. A surgical biopsy was thought to be compatible with the diagnosis of CHF. At physical examination, height was 14cm below the 3rd percentile. The boy's vision was very poor. Blood pressure was 130/70mm. Fundoscopy revealed tapeto-retinal dysplasia. Blood values on admission:hematocrit 16%, hemoglobin 6g/100ml, Calcium 6,7,Phosphorus 7, 1, Urea 234, Creatinine 9, 2mg/100ml. The diuresis was about 2000ml/24hrs. Urine sediment was negative. Proteinuria between 500 and 1600mg/24 hrs. Creatinine clearance : 7ml/min/1.73m2. Except for slight increases of serum GOT and GPT values,there was no anomalies in liver function. A liver puncture biopsy was inconclusive. A kidney biopsy showed diffuse tubular atrophy and interstitial fibrosis. Autopsy findings confirmed the hepato (1500g) spleno(380g)megaly and both diagnoses of CHF and nephronophtisis. This observation is very similar to the cases reported by Biochis et al. (Quart.J.Med.42, 221, 1973) and seems to confirm the existence of this new syndrome.
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Proesmans, W., Macken, J. & Van Damme, B. Congenital Hepatic Fibrosis (CHF) and Nephronophtisis.. Pediatr Res 8, 902 (1974). https://doi.org/10.1203/00006450-197411000-00043
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DOI: https://doi.org/10.1203/00006450-197411000-00043