Nephronophthisis associated with Ellis-van Creveld syndrome

Ellis-van Creveld (EvC) and Jeune’s asphyxiating thoracic dystrophy (ATD) are related disorders characterized by narrow thoracic cage and short-limbed dwarfism. Some patients have overlapping features of both ATD and EvC, indicating that these syndromes may be a part of a disease spectrum. Nephronophthisis has been occasionally reported in patients with ATD, but not with EvC syndrome. We report a patient who was diagnosed with EvC syndrome at birth. He developed hypertension at 5 months of age and gradually progressive renal failure, requiring renal transplantation at 8 years. Histopathological findings in the nephrectomy specimen were indicative of nephronophthisis. The association of nephronophthisis in a patient with EvC syndrome has not been reported previously. This association further supports the hypothesis that ATD and EvC syndromes are related and represent a spectrum of disorders. Received February 24, 1997; received in revised form and accepted July 24, 1997     

Purtscher-like retinopathy in nephrotic syndrome associated with mild chronic renal failure

A sudden loss of vision attributable to Purtscher-like retinopathy occurred in a 4-year-old boy with focal segmental glomerulosclerosis and nephrotic syndrome as well as mild chronic renal failure. This retinopathy was bilateral. After treatment with intravenous methylprednisolone, infusion of 20% albumin, and low molecular weight heparin (nadroparin calcium), his visual acuity improved within 3 days. Ischemic retinal blanching and hemorrhages gradually disappeared. The pathogenesis of this disorder is unknown. Received: 23 November 1999 / Revised: 26 April 2000 / Accepted: 27 April 2000     

The Alagille's syndrome and its anaesthetic considerations

Alagille's syndrome is an inherited disorder affecting multiple organ systems. Most characteristic is the paucity of the interlobular bile ducts with cholestasis. The anaesthetic plan for these patients should be based on careful preoperative preparation and attention to the issues involving hepatobiliary, cardiac, neurodevelopmental, nutritional, haematological, ocular and facial abnormalities. We report the case of a five-and-a-half-year old patient with Alagille's syndrome who sustained a pathological fracture of the femur and was scheduled for closed reduction and application of a hip spica cast. Relevant anaesthetic issues are discussed.     

Kidney abnormalities in Hajdu-Cheney syndrome

We report a 14-year-old boy from Saudi Arabia with the Hajdu-Cheney syndrome who also had bilateral hypoplastic kidneys and chronic renal failure. This report, along with others in the literature, suggest that renal abnormalities, including cystic disease, vesico-ureteral reflux, glomerulonephritis, chronic renal failure, and hypertension, may be an integral part of this syndrome. Recognizing this fact, may help in the early diagnosis, prevention, and treatment of renal failure in these patients. Received March 19, 1996; accepted April 9, 1996     

Steroid responsive nephrotic syndrome associated with bilateral renal dysplasia

Renal dysplasia is characterized by hypoplastic kidneys that contain elements of primitive tubules. Patients may develop end-stage renal failure early in life. Nephrotic syndrome is one of the most common renal diseases in childhood and may occur in association with renal dysplasia. We report a case of a child with bilateral dysplastic kidneys and steroid responsive nephrotic syndrome (SRNS). An association between renal dysplasia with chronic renal failure and SRNS has not previously been reported in the English literature. Received: 15 February 2000 / Revised: 29 January 2001 / Accepted: 29 January 2001     

Waardenburg syndrome associated with bilateral renal anomaly

A 1-year-old girl with Waardenburg syndrome type I presented with double collecting system of left kidney accompanied by nonobstructive hydronephrosis of lower pole and by ureteropelvic junction obstruction of right kidney. Renal involvement in Waardenburg syndrome was reported once in a 4-month-old boy with unilateral duplication of the renal collecting system and in a 16-day-old girl who had right multicystic dysplastic kidney and hydronephrosis in the left kidney. The third case of renal involvement in Waardenburg syndrome is presented here, with special emphasis on early diagnosis and management of renal anomaly. The authors conclude that urinary system anomalies should also be considered in the wide spectrum of Waardenburg syndrome clinical features to avoid life-threatening complications.     

The hepatorenal syndrome

Hepatorenal syndrome may occur in any form of severe liver disease. It appears less common in children than adults, but still carries a poor prognosis. There are several factors involved in its aetiology, including a decreased renal perfusion pressure, activation of the renal sympathetic nervous system and increased synthesis of several vasoactive mediators, which may modulate glomerular filtration by acting as both renal vasoconstrictors and dynamic regulators of the glomerular capillary ultrafiltration coefficient, through their action on mesangial cells. This review will discuss the pathophysiology of the hepatorenal syndrome and some of the principles of management of patients with renal failure and severe liver disease. The role of renal support and liver transplantation will also be covered.     

Hydrothorax in a patient with Denys-Drash syndrome associated with a diaphragmatic defect

The Wilms tumor suppressor gene, WT1, plays an important role in the development of the urogenital system and the gonads, and clinical syndromes associated with WT1 mutations, such as WAGR syndrome, Denys-Drash syndrome and Frasier syndrome, typically manifest as renal and genitourinary abnormalities. WT1 may also play an important role in the development of the diaphragm, and recently several papers have reported an association between WT1 mutations and diaphragmatic hernias. In addition, WT1 mutations were also detected in some patients with Meacham syndrome, a rare malformation syndrome comprising congenital diaphragmatic hernia, double vagina, sex reversal, and cardiac malformations. Here, we report a case of an infant with typical clinical features of Deny-Drash syndrome and a heterozygous missense mutation, Arg366His, in the WT1 gene, in whom a diaphragm defect was detected after starting peritoneal dialysis. Diaphragmatic defects are rare but may be considered as clinical manifestations of WT1 mutation syndromes. In addition, we suggest that WT1 abnormalities should be suspected in patients with chronic renal failure who develop hydrothorax after peritoneal dialysis, especially in those with genitourinary abnormalities.     

地震挤压综合征血液透析患者营养状态分析

目的评估地震致挤压综合征血液透析患者营养状态,为临床提供治疗依据。方法收集我院2008年5月12日后收治的汶川地震所致挤压综合征接受血液透析的患者24例,用比色法测量相关生化指标进行营养评估。结果所有患者血尿素氮、血肌酐、血白介素-6、C反应蛋白均升高;95．8％的患者血清白蛋白减低,100%的患者血清铁及转铁蛋白饱和度降低,87．5％的患者血清前白蛋白降低,92．9％的患者转铁蛋白降低,56．3％的患者总胆固醇降低。结论地震所致挤压综合征透析患者均存在营养不良,应对地震急性挤压伤透析患者加强营养支持治疗。     

A clinicopathological study of 24 children with hemolytic uremic syndrome

This study reports the pattern of renal injury in 24 North American children with hemolytic uremic syndrome (HUS), and the extent of extrarenal involvement in 9 of these children examined at autopsy. Fifteen of the 24 children were studied during the first 16 days of hospital-ization; their renal specimens demonstrated glomerular thrombotic microangiopathy (TMA) in 8 children, cortical necrosis in 1, and varying degrees of glomerular TMA and cortical necrosis in 6 children. Nine of the children were studied after 16 or more days of hospitalization; these patients had prominent renal arterial lesions. Of 9 children examined at autopsy, extrarenal microthrombi were identified in 8. In 4 children who died during the acute phase of the disease, hemorrhagic colonic necrosis (3 children) and pancreatic islet cell necrosis (2 children) were the principal extrarenal lesions encountered. Rare microthrombi were present in the brains of the 3 children who manifested seizures. Southwest Pediatric Nephrology Study Group (SPNSG Central Office, Baylor University Medical Center, Dallas, Tex. USA). Director: Ronald J. Hogg; Associate Directors: Fred G. Silva, F. Bruder Stapleton; Statistician: Joan S. Reisch; Administrative Assistant: Kaye Green. Participating Centers: Baylor College of Medicine, Houston, Tex., Phillip L. Berry, L. Leighton Hill, David Powell, Edith Hawkins; Baylor University Medical Center, Dallas, Tex., Ronald J. Hogg, Kaye Green; Tulane University Medical Center, New Orleans, La., Frank Boineau, John E. Lewy, Patrick Walker; University of Arkansas, Little Rock, Ark., Watson Arnold, Eileen Ellis, M. Melinda Sanders; University of Colorado Health Science Center, Denver, Colo., Gary M. Lum, William Hammond; University of Oklahoma Medical Center, Oklahoma City, Okla., James Wenzl, Geoffrey Altshuler, Sarah Johnson; University of Tennessee, Memphis, Tenn., F. Bruder Stapleton, Shane Roy, III, Robert J. Wyatt, Charles McKay, William Murphy; University of Texas Southwestern Medical Center, Tex., Billy S. Arant, Jr, Michel Baum, Fred G. Silva, Arthur Weinberg, Craig Argyle, Joseph Rutledge, Ed Eigenbrodt; University of Texas Medical School, Houston, Tex., Susan B. Conley, Jacques Lemire, Ron Portman, Ann Ince, Regina Verani; University of Texas Health Science Center at San Antonio, Tex., Michael foulds, Sudesh Makker, Kanwal Kher, Melanie Sweet, Victor Saldivar, Fermin Tio; University of Texas Medical Branch, Galveston, Tex., Ben H. Brouhard, Alok Kalia, Luther B. Travis, Lisa Hollander, Tito Cavallo, Srinivasan Rajaraman; University of Utah Medical Center, Salt Lake City, Utah, Eileen Brewer, Richard Siegler, Elizabeth Hammond, Theodore Pysher     

Post-dysenteric hemolytic uremic syndrome in children during an epidemic of Shigella dysentery in Kwazulu/Natal

We report 81 of 107 cases of hemolytic uremic syndrome (HUS), admitted between July 1994 and February 1996, following an outbreak of Shigella dysenteriae type 1 dysentery in Kwazulu/Natal. All patients, excluding 1, were black with a mean age of 38 months (range 1 – 121); 50 (61.7%) were males. The mean duration of dysentery was 11.3 days (range 1 – 41) and HUS 15 days (range 1 – 91). Most patients had acute oliguric renal failure (90.1%); 42 (51.6%) required peritoneal dialysis. Complications included encephalopathy 30 (37.0%), convulsions 12 (14.8%) and hemiplegia 2 (2.3%), gastrointestinal perforation 8 (9.9%), protein losing enteropathy 26 (32.1%), toxic megacolon 4 (4.9%), rectal prolapse 5 (6.2%), hepatitis 11 (13.6%), myocarditis 5 (6.2%), congestive cardiac failure 3 (3.7%), cardiomyopathy 3 (3.7%), infective endocarditis 1 (1.2%), septicemia 15 (18.5%), disseminated intravascular coagulation 17 (21%). Leukemoid reactions were found in 74 (91.3%) patients, hyponatremia in 56 (69.1%), and hypoalbuminemia in 67 (82.7%). Stool culture for Shigella dysenteriae type I was positive in only 7 (8.6%) patients; Shiga toxin assays were not performed. Outcome was as follows: recovery 32 (39.5%), impaired renal function 8 (9.9%), chronic renal failure 26 (32.1%), end-stage renal disease 1 (1.2%), and death 14 (17.3%) patients. Received November 26, 1996; received in revised form and accepted April 15, 1997     

Early diagnosis of Bardet-Biedl syndrome

A 3-year-old boy presented with decreased renal function, hypertension, obesity and developmental delay. Evaluation of his kidneys revealed blunting of the calyces and multiple renal cortical cysts. Ophthalmologic evaluation showed no abnormalities on examination but electroretinography showed reduced retinal function suggesting a diffuse retinal disorder. Based on the clinical presentation with the associated abnormalities, the diagnosis of Bardet-Biedl syndrome, a form of the Laurence-Moon-Biedl syndrome was made. This syndrome should be considered and specific diagnostic efforts should be made in pediatric patients who present with renal failure and obesity.     

Surgical management of congenital heart defects associated with heterotaxy syndrome

Objective: Heterotaxy syndrome (HS) is generally associated with complex congenital cardiac defects and has a high morbidity and mortality despite recent surgical progress. Only few reports deal with an overall surgical population. Methods: Between 1989 and 2008, 139 patients with HS entered a programme of surgical repair. Fifty-one patients were suitable for univentricular heart repair (UVR) and 88 for biventricular repair (BVR). Among those tracked for UVR, two were switched to BVR and 11 from BVR to UVR. Median age at first surgery was 4.4 months (range: 3 days to 43 years] of whom 34 were neonates. The mean number of surgical procedure per patient was 1.99. Primary BVR was performed in 37 patients. Re-operation was required in 22 patients, 15 after BVR and seven after UVR (p > 0.05). Results: The overall mortality was 20.8%. It was 7.2% after the first surgery, 6.6% after the second and 11.5% after the third. The overall mortality in patients with univentricular physiology was 25.5% and 18.2% in the biventricular group (p < 0.05). According to the surgical track, in the UVR group, mortality was 18% and 15.6% in the BVR group (p = NS). This rate was 40% in patients with long-lasting palliation (p < 0.05 vs both other groups). Median follow-up was 127 months (range: 1 month to 19 years). The overall survival rate at 15 years was 70.6%. When considering ventricular anatomy, survival rates at 15 years were 69% for the univentricular group and 74.2% for the biventricular group (p > 0.05). According to the type of surgical approach, at 15 years they were 85.1% for UVR and 77% for BVR (p = NS). For the palliation group, it was 15% only at 15 years (p < 0.05 vs both other groups). Risk factors for overall mortality were neonatal surgery, long-standing palliation, total anomalous pulmonary vein return (TAPVR) and right ventricular outflow tract obstruction (RVOTO). At the last visit, all survivors were in the New York Heart Association (NYHA) class I to II and only two presented with supraventricular arrhythmias. Conclusions: HS remains a difficult situation with high morbidity and mortality. An aggressive approach to repair TAPVR when present should be considered. Early decision to track the patient in either uni- or biventricular repair programme should avoid long-lasting deleterious palliation.     

Congenital heart defect with associated malformations in children

Background

Children with multisystem involvement including congenital heart defect (CHD) are a very salient problem. The purpose of this study was to evaluate the incidence of CHD associated with malformations of other systems and to assess the modalities of treatment and perioperative mortality among patients referred to the department of pediatric cardiac surgery.

Methods

The medical records of 1856 children were reviewed retrospectively from 1997 to 2002 to establish CHD and types of associated malformations. The connections between CHD and other lesions were investigated. Furthermore, the influence of patient and perioperative variables on mortality risk was scrutinized. Univariate and multivariate analyses were used.

Results

Eighty-four children (4.53%) had CHD and associated malformations. The malformations of digestive (35.7%), urinary (22.4%), and nervous (14.3%) systems were the most frequently observed associated defects. No relation was found between CHD and concomitant lesions. The results of multivariate logistic regression showed significant influence of patient age, primary cardiac procedure, and CHD type on mortality (ca 19%) in children with multiorgan lesions.

Conclusions

The treatment of children with CHD and associated multiple lesions is connected with higher mortality risk. The following factors: younger age, urgency of surgical procedure, and primary surgical procedure had negative impact on patient's outcome. However, these risks in certain cases are inevitable. The cardiac procedure preceding the surgical operation may improve the overall effect of treatment because of circulatory stabilization, provided that the condition of the patient does not preclude any intervention at all.     

Familial, atypical hemolytic-uremic syndrome in a premature infant

The hemolytic-uremic syndrome (HUS) typically presents in toddlers or older children after an episode of bloody diarrhea caused by Escherichia coli 0157:H7. However, numerous ’’atypical’’ presentations have been described, including familial cases. Here we describe what we believe to be the first report of familial HUS in a premature infant during the neonatal period. Received December 19, 1997; received in revised form April 13, 1998; accepted April 14, 1998     

A new mutation in two siblings with cystinosis presenting with Bartter syndrome

Nephropathic cystinosis is a severe autosomal recessive inherited metabolic disease characterized by accumulation of free cystine in lysosomes. Cystinosis can lead to renal failure and multiorgan impairment. Only five cases of cystinosis with associated Bartter syndrome are reported in the literature, and no genetic evaluation has been reported. We describe two siblings with nephropathic cystinosis presenting with features of Bartter syndrome and their genetic pattern.     

Restless legs syndrome in pediatric patients with chronic kidney disease

Sleep disorders have been shown to be more prevalent in adults and children with chronic kidney disease (CKD) and on dialysis. To date, the prevalence and impact of restless legs syndrome (RLS) in various stages of CKD has not been evaluated. The object of this study was to determine the prevalence of RLS in children with CKD in different stages, and to evaluate its impact on sleep and daytime functioning. We conducted a clinic-based or telephone survey of 26 patients in varying stages of CKD to assess for RLS, sleep schedule, and daytime sleepiness. Thirty-five percent of children met criteria for RLS, the majority being in CKD stages 1–4. There were no significant differences seen in sleep schedule and daytime sleepiness between those children with or without RLS. We found that there is an increased prevalence of RLS in children with CKD compared to the general population. This suggests that children with all stages of CKD should be routinely screened for RLS symptoms.     

Haemolytic uraemic syndrome with prolonged anuria and cortical calcification: a case report

An 18-month-old infant presented with haemolytic uraemic syndrome following a prodrome of colitis. Incomplete recovery of renal function occurred after 4 weeks of anuria and was associated with extensive renal cortical calcification. During the recovery phase he had two relapses of colitis, microangiopathic haemolytic anaemia and thrombocytopenia without any deterioration in renal function.     

Hemolytic uremic syndrome associated with Acinetobacter hemolyticus

Shiga toxin-producing Escherichia coli and Shigella dysenteriae have been associated with bloody diarrhea and hemolytic uremic syndrome (HUS) in humans. However, there have been only a couple of reports describing bloody diarrhea associated with Acinetobacter spp. and there are no reports of these bacteria causing HUS in children. Here, we report the case of a nine-month-old boy with bloody diarrhea who developed non-oliguric renal failure. The clinical and laboratory findings supported the diagnosis of Acinetobacter hemolyticus infection associated with HUS. The patient responded favorably to antibiotic therapy plus conservative treatment. In conclusion, Acinetobacter infection should be considered as a plausible cause of HUS in cases where E. coli infection is not involved. The rapid transformation ability of Acinetobacter is a matter of concern.