Baerlocher K, Gitzelmann R, Steinmann B, Gitzelmann-Cumarasamy N
Helv Paediatr Acta. 1978 Dec;33(6):465-87.
Twenty infants and young children with hereditary fructose intolerance (HFI) were admitted to hospital. None was diagnosed at admission. Referals were for vomiting of unknown aetiology (16X), pyloric stenosis or hiatus hernia (5X), toxic condition (3X), and hepatomegaly of unknown origin (5X). Feeding difficulties (20X), vomiting (18X), and failure to thrive (16X) were leading symptoms. The most frequent clinical findings were hepatomegaly (18X), pallor (14X), haemorrhages (13X). Ascites, oliguria, tachypnoea, fever, splenomegaly and rickets were less frequent. Laboratory findings were indicative of disturbed hepatic and renal tubular function and also of disturbed intermediary metabolism (hypokaliaemia, hypophosphataemia). However, hypoglycaemia was found in only 4 out of 15 patients tested. Differential diagnosis after hospital admission centered on metabolic disorders such as glycogenoses, galactosaemia, tyrosinosis, or Wilson's disease. Hepatitis, toxic hepatosis, liver tumour, intrauterine infection and sepsis were also considered. Eleven children had first ingested fructose within the first 6 weeks of life. The diagnosis was usually established only many weeks or months after first fructose intake and appearance of symptoms. This documents how difficult the diagnosis of this disease can be both in practice and in hospital. The course was severe in 11 children and lethal in 4. In only 5 patients was the course mild. The 16 survivors are doing well under fructose-exclusion diet. Irreversible visual impairment after intraocular haemorrhage occurred once. In each case HFI could have been suspected immediately, had a detailed nutritional history been taken. Practising paediatricians should know the composition of commonly used infant formulae. They should never prescribe sugared condensed milk for intractable vomiting prior to excluding HFI. Solution for intravenous infusion containing fructose and sorbitol are life-threatening for undiagnosed HFI patients.
20名患有遗传性果糖不耐受（HFI）的婴幼儿入院治疗。入院时均未确诊。转诊原因包括病因不明的呕吐（16例）、幽门狭窄或食管裂孔疝（5例）、中毒状态（3例）以及原因不明的肝肿大（5例）。喂养困难（20例）、呕吐（18例）和生长发育迟缓（16例）是主要症状。最常见的临床体征是肝肿大（18例）、面色苍白（14例）、出血（13例）。腹水、少尿、呼吸急促、发热、脾肿大和佝偻病则较少见。实验室检查结果表明存在肝脏和肾小管功能紊乱以及中间代谢紊乱（低钾血症、低磷血症）。然而，在15例接受检测的患者中，仅4例发现低血糖。入院后的鉴别诊断主要集中在代谢紊乱，如糖原贮积病、半乳糖血症、酪氨酸血症或威尔逊病。也考虑了肝炎、中毒性肝病、肝肿瘤、宫内感染和败血症。11名儿童在出生后的头6周内首次摄入果糖。诊断通常在首次摄入果糖并出现症状后的数周或数月才得以确立。这证明了这种疾病在实际临床和医院环境中诊断的难度。11名儿童病情严重，4例死亡。只有5例病情较轻。16名幸存者在果糖排除饮食下情况良好。曾有1例因眼内出血导致不可逆视力损害。在每一例中，如果详细询问了营养史，本可立即怀疑患有HFI。执业儿科医生应了解常用婴儿配方奶粉的成分。在排除HFI之前，切勿为顽固性呕吐患儿开具加糖炼乳。对于未确诊的HFI患者，含有果糖和山梨醇的静脉输液溶液会危及生命。
