Combined Alport syndrome,Klinefelter syndrome and Fanconi syndrome in a Chinese boy

Alport syndrome (AS) is a progressive renal disease characterized by hematuria and progressive renal failure. X-linked dominant (XLAS) is the major inheritance form, accounting for almost 80% of the cases, caused by mutations in COL4A5 genes. Klinefelter syndrome (KS) is the most common genetic cause of human male gonadal dysgenesis. AS and KS are both rare disease, there are only three cases of combined AS and KS in the literatures. Fanconi syndrome (FS) caused by AS is also very rare. We report here the first case combined AS, KS and FS in a Chinese boy. We suggest that the severe renal phenotype and FS might be due to the two homozygous COL4A5 variants in our boy, and cases of AS combined KS will be good research objects for X chromosome inactivation.     

Autoerythrocyte sensitization (Gardner-Diamond) syndrome mimicking compartment syndrome

We report a case with an unusual manifestation of autoerythrocyte sensitization syndrome (Gardner-Diamond syndrome). The patient had the clinical signs of compartment syndrome of the forearm requiring fasciotomy. Dermatological signs identical to Gardner-Diamond syndrome should alert the physician to avoid unnecessary fasciotomy, as these patients respond well to psychiatric treatment as in the present case.     

Lowe's syndrome with Fanconi syndrome for ocular surgery: perioperative anesthetic considerations

Lowe's syndrome is a rare inherited metabolic disorder characterized by mental retardation, kidney malfunction, and abnormalities of the eyes and bones. A 4 month-old child with Lowe's and Fanconi's syndrome, undergoing bilateral congenital cataract surgery, is presented. Preoperative electrolyte imbalance was corrected by potassium, calcium, magnesium, phosphate, and bicarbonate supplementation. Anesthesia was administered uneventfully using appropriate anesthetic agents and monitoring. Adequate preoperative evaluation and optimization, along with selection of anesthetic agents and fluid and electrolyte management with appropriate perioperative monitoring, is key to a successful outcome.     

Steroid-responsive nephrotic syndrome in a patient with nail-patella syndrome

Nail-patella syndrome (NPS) is a rare disorder with autosomal dominant mode of inheritance. We report a child with NPS and steroid-responsive, frequently relapsing nephrotic syndrome. The child had dystrophic nails, flexion contractures of both elbows and normal renal functions. X-rays of the knees and pelvis showed hypoplastic patellae and iliac horns. Renal histology was unremarkable with mild focal increase in mesangial cellularity compatible with minimal change disease. Ultrastructural features of NPS including thickening of the glomerular basement membrane with electron-lucent areas were not found.     

Antecnbital pteryginm syndrome

Summary Antecubital pterygium syndrome is an abnormality characterized by congenital webbing of the elbow. The presence of this web limits the extension of the elbow at 90°. In this paper, a father and son with bilateral anomaly are described and the results of surgery are discussed.     

Stevens-Johnson syndrome in a boy with nephrotic syndrome during prednisolone therapy

Stevens-Johnson syndrome (SJS) is a mucocutaneous disease that can be lethal. It can occur in association with altered immunological conditions and the administration of various drugs, including corticosteroids. We report a case of SJS in a 14-year-old male with nephrotic syndrome, who was treated with oral prednisolone for 6 weeks. He presented symptoms of fever, skin lesions consisting of multiple vesiculopapular rashes, pruritic maculae and bullae, and mucosal involvement of the eyes, lips, oral cavity, and anorectal junction. His condition improved without complications following the discontinuation of oral prednisolone and replacement with intravenous methylprednisolone. Following the improvement of the symptoms of SJS, he received alternate-day oral prednisolone without any cutaneous eruption.     

Small aorta syndrome

A 47-year-old female with a 10-year history of bilateral intermittent claudication was diagnosed as having small aorta syndrome (SAS) and was successfully treated by an aorto-bifemoral bypass with aortic thrombendarterectomy. The infra-renal aorta was narrow, being 10 mm in diameter, with thrombotic occlusion of the terminal aorta and common iliac arteries. These findings were compatible with the features of SAS, however, there were few atherosclerotic changes in the abdominal wall and no evidence of any prediposing risk factors such as smoking or hyperlipidemia. computed tomography, in addition to arteriography, seemed imperative for making the preoperative diagnosis. SAS is not uncommon as an established entity in Western countries, but in Japan there have been few reports to date. The etiology, diagnosis, and management of this entity are reviewed following the presentation of this case.     

Crush syndrome due to drug-induced compartment syndrome: A rare condition not to be overlooked

Purpose  The crush syndrome caused by drug-induced compartment syndrome (DCS) is a challenge for surgeons because it is regularly associated with potentially fatal complications. Drug-induced compartment syndrome can often be distinguished from other forms of compartment syndrome by the presence of severe rhabdomyolysis with kidney crush and severe postoperative complications such as local and generalized infection, persistent nerve damage, coagulopathy, and multiorgan failure. Methods  In the past 15 years, eight prospectively documented, operatively managed, DCS with subsequent crush syndrome cases were recorded. Results  All of the patients required renal replacement therapy. The creatine kinase (CK) values in the context of rhabdomyolysis reached an average of 86 (range 47–144) kU/l. The renal function recovered in all surviving patients. The analysis showed that the diagnosis of a DCS is usually made after an average of 13 h. It then took an average of an additional 7 h before a fasciotomy was performed. Six operational revisions were necessary. In three out of eight patients the extremities had to be amputated. Conclusions  In DCS the decision to open the compartment should be made immediately upon the clinical diagnosis. A protracted intensive phase is expected. The benefit to patients is closely associated with surgical wound debridement along with rigorous intensive therapy. M. Golling and H. Fonouni contributed equally to this work.     

Chronic exertional compartment syndrome of the superficial posterior compartment: Soleus syndrome

Chronic exertional compartment syndrome (CECS) represents the second most-common cause of exertional leg pain with incidence of 27-33%. CECS of the superficial posterior compartment, or soleus syndrome, is rare and has only been discussed briefly in the literature. We discuss the management of two patients with bilateral soleus syndrome or CECS of the superficial posterior compartment.     

Felty综合征

Felty综合征是指具有类风湿性关节炎、粒细胞减少和脾大的三联征,是类风湿性关节炎的一种少见特殊类型.本文对Felty综合征临床特点进行阐述.     

Anaesthesia for caesarean section in a patient with Ehlers-Danlos syndrome associated with postural orthostatic tachycardia syndrome

We report the use of regional anaesthesia for elective caesarean section in a primigravida with hypermobility type Ehlers-Danlos syndrome (type III) associated with postural orthostatic tachycardia syndrome. Single-shot spinal anaesthesia was performed after failed epidural anaesthesia. This genotype, although generally associated with fewer antenatal and peripartum complications, is more likely than other types to display dysautonomia and orthostatic intolerance. This requires careful management for delivery.     

Non-Down's syndrome macroglossia

Summary A large tongue is uncommon. When present, it is nearly always related to acromegaly or hypothyroidism and is resolved after treatment of the hormonal disturbances. Macroglossia related syndromes, although more rare, have been described before - the most common being Down's syndrome or Trisomy 21. In this article, a series of sixteen patients with various types of macroglossia not related to Down's syndrome are described; the surgical treatment and its results are presented, as is a brief review of the literature.     

Cerebral salt wasting syndrome

Hyponatremia following acute or chronic central nervous system injury which is due to excessive Na⁺loss in the urine without an increase in the body fluid, has been described as Cerebral Salt Wasting Syndrome (CSWS). This syndrome is often confused with dilutional hyponatremia secondary to inappropriate ADH secretion. Accurate diagnosis and management are mandatory for to improve the course of the disease.In this study a patient with CSW Syndrome is presented and the treatment and diagnosis of this syndrome are discussed in view of the literature.     

Compartment syndrome in all four extremities: a rare case associated with systemic capillary leak syndrome

While isolated limb injuries often lead to suspicion for and treatment of compartment syndrome, multi-limb compartment syndrome induced by a systemic disease is a rare entity, in which lack of immediate diagnosis can have catastrophic consequences to the patient. We present a patient with idiopathic systemic capillary leak syndrome (SCLS) resulting in compartment syndrome in all four extremities. Treatment required bilateral hand, forearm, calf, and thigh fasciotomies. Presenting symptoms included pain in all four extremities, malaise, and confusion. Laboratory data included polycythemia, hypoalbuminemia, leukocytosis, and elevated creatinine, but not a monoclonal spike on serum electrophoresis as is common in SCLS. Thus, when faced with clinical evidence of multiple extremity compartment syndrome, the surgeon should consider systemic disorders, such as SCLS, and aggressively treat the compartment syndrome as well as the underlying disease.     

Diencephalic syndrome of emaciation (Russell''s syndrome) long-term survival

Three cases of diencephalic syndrome are reported. Two of them, which have been observed postoperatively for more than 7 years, showed typical clinical and endocri-nologic features at the time of their first admission, but showed mass signs uncharacteristic of diencephalic syndrome after recurrence of the tumor. Recent data showed a normal baseline for plasma growth hormone but abnormalities in provocation tests. The significance of age in the manifestation of the syndrome is briefly discussed, especially in relation to the tendency toward normalization in the growth hormone level at a later age.     

Tubulointerstitial nephritis and uveitis syndrome (TINU): a step forward to understanding an elusive oculorenal syndrome

In this issue of NDT, Sartelet et al. [1] provide an interestingstudy on Tubulointerstitial Nephritis and Uveitis syndrome (TINU),an oculorenal syndrome the pathophysiology of which is stillpoorly understood. TINU is a rare disease, first described in 1975 by Dobrin [2]in two adolescent girls, in whom non-caseating granulomas werefound in the bone marrow and in the lymph nodes, in associationwith anterior uveitis and tubulointerstitial nephritis. Sincethen, more than 200 cases have been reported in the ophthalmologicand paediatric literature,     

急性胰腺炎中全身炎症反应综合征与抗炎症反应综合征

急性胰腺炎是一种常见的急重症,被公认为是炎症紊乱的过程.早期暴发性的促炎细胞因子释放引起全身炎症反应综合征,导致多器官功能障碍综合征引起死亡.后期由于大量的抗炎细胞因子,引发抗炎症反映综合征,机体免疫功能受到抑制,诱发感染,进而形成毒血症.因此,重新建立SIRS/CARS的平衡对急性胰腺炎患者发病过程及转归有着重要的临床意义.本文就急性胰腺炎引起的SIRS、CARS有关参与冈子及机制做一综述.