1/40. Clinical spectrum of infantile free sialic acid storage disease.Infantile free sialic acid storage disease (ISSD) is a rare autosomal recessive metabolic disorder caused by a lysosomal membrane transport defect, resulting in accumulation of free sialic acid within lysosomes. Only a few cases have been described. We report on three new cases of ISSD with different modes of presentation: an infant with nephrotic syndrome, a case of fetal and neonatal ascites with heart failure, and a case of fetal ascites with esophageal atresia type III. From these patients and a review of the literature (27 cases total) we draw the following conclusions. 1) "Coarse facies," fair complexion, hepatosplenomegaly, and severe psychomotor retardation are constant findings in this disorder. 2) nephrotic syndrome occurred in most cases (four in seven) in which renal evaluation was performed. Therefore, ISSD is an important cause of nephrosis in infants with a storage disorder phenotype. 3) Fetal/neonatal ascites or hydrops was the mode of presentation in 13 (60%) of 21 cases. Thus, ISSD enters in the differential diagnosis of hydrops fetalis with a storage disease phenotype. 4) cardiomegaly was evident in nine cases. 5) Corneae were always clear, and albinoid fundi were reported in five cases. 6) Dysostosis multiplex was not prominent. 7) bone marrow aspiration could be negative. 8) death ensued in early infancy with a mean age of 13.1 months. All reported deaths were caused by respiratory infections.- - - - - - - - - - ranking = 1keywords = nephrosis (Clic here for more details about this article) |
2/40. Congenital nephrotic syndrome responsive to captopril and indometacin.Two children with congenital nephrotic syndrome are described (one with Finnish-type nephrosis, the other with diffuse mesangial sclerosis). Both children have had a prolonged and sustained clinical response with good physical health and normal growth patterns using captopril and indometacin as their sole treatment. No adverse effects have been noted. We recommend a trial of indometacin and captopril treatment in cases of congenital nephrotic syndrome.- - - - - - - - - - ranking = 1keywords = nephrosis (Clic here for more details about this article) |
3/40. 46,XY gonadal dysgenesis associated with congenital nephrotic syndrome and sepsis.The occurrence of nephrosis in the first 3 months of life is rare and is termed 'congenital nephrotic syndrome.' The congenital nephrotic syndrome is a group of heterogeneous diseases with a clinical course that differs markedly from the childhood nephrotic syndrome. The coexistence of a congenital nephrotic syndrome and gonadal dysgenesis in a 46,XY karyotype with normal female external genitalia is extremely rare. Frequent severe infections are often seen in the Finnish type, but sepsis leading to death is rare in the neonatal onset of gonadal dysgenesis. This report describes an unusual case of complete XY gonadal dysgenesis in a 46,XY female neonate with the congenital nephrotic syndrome and overwhelming sepsis.- - - - - - - - - - ranking = 1keywords = nephrosis (Clic here for more details about this article) |
4/40. nephrotic syndrome in Hodgkin's disease. Evidence for pathogenesis alternative to immune complex deposition.The nephrotic syndrome has been reported to occur in patients with Hodgkin's disease even in the absence of amyloidosis, tumor infiltration of renal vein thrombosis. Three patients are presented with Hodgkin's disease and the nephrotic syndrome whose renal biopsy specimens studied with light, immunofluorescence and electron microscopy were compatible with "lipoid nephrosis" (minimal change disease). A review of the literature reveals 35 patients with Hodgkin's disease and the nephrotic syndrome. Renal tissue was available for examination in only 27 patients. The majority of patients apparently had glomerular alterations consistent with lipoid nephrosis. The nephrotic syndrome in most of these patients remitted with a variety of methods of therapy (including excision, irradiation, prednisone and cyclophosphamide) and tended to relapse with a recurrence of Hodgkin's disease. In three-fourths of the patients with Hodgkin's disease and the nephrotic syndrome, the Hodgkin's disease was of a mixed cellularity type. The etiology of lipoid nephrosis, although unclear, may be a consequence of altered lymphocyte function. Hodgkin's disease is a malignancy involving T lymphocytes, and the nephrotic syndrome occurring in the course of Hodgkin's disease may be a result of an adverse effect of glomeruli by products of tumor lymphocytes rather than of glomerular deposition of immune complexes.- - - - - - - - - - ranking = 3keywords = nephrosis (Clic here for more details about this article) |
5/40. Immediate post-transplant nephrosis in a patient with congenital nephrotic syndrome.A 19-month-old girl with congenital nephrotic syndrome of the Finnish type underwent a living-related renal transplant; 24 h after transplantation she became massively nephrotic. She did not respond to steroids, plasmapheresis, and high-dose cyclosporine. A month later, a renal biopsy showed only glomerular foot process effacement. She was treated with high-dose methylprednisolone pulses and oral cyclophosphamide. She rapidly went into complete remission with no further relapses. Graft function has been stable 2 years after transplantation.- - - - - - - - - - ranking = 4keywords = nephrosis (Clic here for more details about this article) |
6/40. Glomerular lesions in hodgkin disease.Three cases of hodgkin disease with renal manifestations were studied with electron microscopy and immunofluorescence. The first patient had lipoid nephrosis that disappeared after chemotherapy for hodgkin disease. Immune-complex nephritis was observed in the second patient who also had Sjogren syndrome. The third patient developed amyloid nephrosis five years after the onset of hodgkin disease. Apparently, diverse lesions and mechanisms are involved in the development of the nephrotic syndrome in hodgkin disease and the diagnosis can only be established by appropriate studies of kidney specimens.- - - - - - - - - - ranking = 2keywords = nephrosis (Clic here for more details about this article) |
7/40. Spontaneous resolution of infantile nephrotic syndrome.Congenital nephrosis is a rare disease with universally accepted poor prognosis; despite developments in the pathogenesis and management, these children are always a challenge to the caregivers and families. Reported here, is a case of a 6-month-old female infant with infantile nephrotic syndrome, who went into spontaneous resolution within a week without therapy and remained asymptomatic for the following 2 years.- - - - - - - - - - ranking = 1keywords = nephrosis (Clic here for more details about this article) |
8/40. Recurrent arterial thrombosis in nephrosis.Recurrent arterial thrombosis without inciting trauma occurred in an 8-year-old boy with the nephrotic syndrome. thrombosis of the left femoral artery was successfully managed by early thrombectomy and postoperative anticoagulation therapy, but the right leg finally had to be amputated. The development of hypovolemia in the nephrotic child receiving long-term steroid therapy apparently increases the tendency to a hypercoagulable state.- - - - - - - - - - ranking = 4keywords = nephrosis (Clic here for more details about this article) |
9/40. Steroid-resistant nephrotic syndrome and congenital anomalies of kidneys: evidence of locus on chromosome 13q.BACKGROUND: Steroid-resistant nephrotic syndrome (SRNS) and congenital anomalies of kidney and urinary tract (CAKUT) are major causes of renal dysfunction in children. Although a few patients with 13q deletion have been previously reported with renal anomalies, the association of SRNS with 13q has not been reported and critical regions associated with CAKUT have not been identified. We present the results of deletion mapping studies to identify the critical regions. methods: Cytogenetic and deletion mapping studies were performed on dna obtained from peripheral blood of two children with renal anomalies and interstitial deletion of 13q as well as their parents. Twenty eight microsatellite markers with a spacing of 1-8 Mb (1-3 cM) were utilized. RESULTS: The patients (both males, 5 and 10 years old) had varying severity of developmental delay and other neurologic disorders. The renal involvement included hydronephrosis, ureterocele, renal dysplasia, and mesangioproliferative SRNS. Our studies imply existence of at least two critical regions in the 13q area that are linked to CAKUT. The first is a 7 Mb region defined by markers D13S776 and D13S891 shared by both patients. The second is a much larger region extending at least 33 Mb above D13S776 seen in one patient with severe renal malformations and SRNS. CONCLUSION: We report an association of chromosome 13q with CAKUT as well as SRNS. Our studies suggest the presence of more than one gene in this region that is likely to be involved in renal development and function.- - - - - - - - - - ranking = 1keywords = nephrosis (Clic here for more details about this article) |
10/40. Central neurotoxicity of cyclosporine in two children with nephrotic syndrome.The central neurotoxicity of cyclosporin A (CsA) has been abundantly documented in pediatric and adult recipients of bone marrow or organ transplants, with variations in the rate of occurrence from 0.5% to 35%. We report two cases of central neurotoxicity ascribable to CsA in children with nephrotic syndrome due to lipoid nephrosis. The manifestations of CsA-related central neurotoxicity include confusion, aphasia, dystonias, akinetic mutism, parkinsonism, palsies, seizures, catatonia, coma, brain hemorrhage, and cortical blindness. Decreased density of the cerebral white matter is visible by computed tomography (CT) in 50% of cases, with the most commonly involved sites being the occipital cortex, the cerebellum, the periventricular substance, and the brainstem. magnetic resonance imaging is more sensitive and more specific than CT for investigating the white matter. High-signal lesions are seen on T2-weighted sequences in the areas that are abnormal by CT. Many risk factors have been reported, including hypomagnesemia, hypocholesterolemia, high-dose glucocorticoid therapy, arterial hypertension, and infections. We present two patients with central neurotoxicity both of whom have elevated cholesterol levels.- - - - - - - - - - ranking = 1keywords = nephrosis (Clic here for more details about this article) |
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