2012年 · 第50卷第12期

The ketogenic diet, a high-fat, low-carbohydrate, and appropriate protein diet, was developed by Wilder of the Mayo Clinic^[1]It was first proposed in 1921 and applied to the clinical treatment of drug-refractory epilepsy； Anti-epileptic since 1939The drug phenytoin came into existence until the end of the 20th century, due to the classic anti-epilepticWith the continuous emergence of drugs and the relatively complex production of ketogenic diets, people's interest in dietary therapy has diminished; In 1998, Johns Hopkins Hospital reported the effect of ketogenic diet on treatment of refractory epilepsySix months after ketogenic diet treatment, 51% of children had epilepsyThe frequency of attacks decreased by 50%, and the frequency of attacks decreased by more than 90% in 32% of children^[2]； In addition, although some new antiepilepticDrugs are constantly on the market, but for refractory epilepsyThere has been no breakthrough in the treatment of epilepsy, and 35% of epilepsy is still presentThe patient is drug refractory; Therefore, ketogenic diet is used as a special dietary therapy to treat refractory epilepsy in childrenRegained attention. The efficacy of the ketogenic diet has been confirmed in multicenter studies, retrospective studies, and prospective^[3,4,5], a meta-analysis of the efficacy of the ketogenic diet showed that 56% of children had 50% remission in attack frequency and 32% had more than 90% remission in attack frequency^[6]。

Adverse drug reactions refer to adverse or harmful reactions unrelated to treatment that occur in the process of clinical use of drugs according to normal usage and dosage, and can be seen in 10% to 15% of hospitalized patients. cutaneous adverse drug reactions (CADR) are common adverse drug reactions, mainly including drug eruption, drug hypersensitivity syndrome (DHS/HSS), Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN), and their severity increases in turn. SJS, TEN and DHS are classified as severe cutaneous adverse drug reactions (SCADR). Drug eruption is drug-induced cutaneous erythema erythema, scarlet fever-like erythema, polymorphic and nodular erythema and fixed drug eruption, which mostly resolves 1 to 2 weeks after stopping the drug; DHS refers to drug reactions involving multiple organs (liver, kidney, heart, lung, thyroid, brain, etc.) accompanied by systemic symptoms such as febrile rash, joint pain, eosinophilia, and lymphadenopathy. Half of DHS patients are accompanied by hepatitis, DHS rarely involves mucosa, and its fatality rate is about 10%^[1]； SJS is a rapidly progressive cutaneous maculopapular rash and herpes, which then develops into cutaneous mucous membrane ulcers and exfoliation; SJS and TEN are different manifestations of the same disease. Less than 10% of skin exfoliation is SJS, more than 30% is TEN, and between 10% and 30% is SJS and TEN coexistence; SJS and TEN can also be accompanied by fever, as well as damage to heart, liver, kidney and other organs. The fatality rates of SJS and TEN were as high as 10% ~15% and 50%, respectively; The sequelae of SJS and TEN are also very serious, especially visual impairment, which can affect 30% to 70% of survivors. The progress in pharmacogenetics, epidemiology, etiology and pathogenesis of SCADR are reviewed.

Dent's disease (Dent's disease) is an X-linked recessive inherited renal tubular disease, which is characterized by low-molecular-weight proteinuria (LMWP), hypercalciuria, renal calcification and renal stones. Some patients may develop renal dysfunction or renal failure. Dent's disease is a rare genetic disease whose incidence is currently unknown, so far around 250 families have been reported worldwide, while 6 cases have been reported domestically. The disease was first reported by Dent in 1964, and the disease was systematically described and named in 1990^[1,2]。

Glutaric aciduria type I (GA1) is an autosomal recessive disease, which was developed by Goodman et al. in 1975^[1]First reported. The disease is used as a neonatal screening disease in many countries, and the neonatal prevalence reported abroad is about 1 in 100 000^[2]。 Domestic understanding of this disease is still insufficient, because its non-specific clinical manifestations are prone to misdiagnosis and misdiagnosis. Neonatal screening for this disease has not been carried out in China, and there are no multicenter statistics on the incidence rate. The incidence of newborn screening in Zhejiang Province is 1/64 708^[3]。 The disease is caused by glutaryl-CoA dehydrogenase (GCDH) deficiency caused by metabolic disorders of lysine, hydroxylysine and tryptophan causing the accumulation of glutaric acid, 3-hydroxyglutaric acid and glutaric acid in body fluids. Acute encephalopathic crisis induced by non-specific disease usually 3 to 36 months after birth, resulting in severe neurological sequelae or death^[4]。 Neonatal screening using tandem mass spectrometry or gas chromatography/mass spectrometry techniques can detect such children^[3]。 Early diagnosis and rational treatment can significantly improve the prognosis of patients. Progress in etiology, clinical manifestations, diagnosis and treatment is reviewed.