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1.
Calcif Tissue Int ; 114(3): 255-266, 2024 03.
Artigo em Inglês | MEDLINE | ID: mdl-38226986

RESUMO

X-linked hypophosphatemia (XLH) is the most common monogenetic cause of chronic hypophosphatemia, characterized by rickets and osteomalacia. Disease manifestations and treatment of XLH patients in the Netherlands are currently unknown. Characteristics of XLH patients participating in the Dutch observational registry for genetic hypophosphatemia and acquired renal phosphate wasting were analyzed. Eighty XLH patients, including 29 children, were included. Genetic testing, performed in 78.8% of patients, showed a PHEX mutation in 96.8%. Median (range) Z-score for height was - 2.5 (- 5.5; 1.0) in adults and - 1.4 (- 3.7; 1.0) in children. Many patients were overweight or obese: 64.3% of adults and 37.0% of children. All children received XLH-related medication e.g., active vitamin D, phosphate supplementation or burosumab, while 8 adults used no medication. Lower age at start of XLH-related treatment was associated with higher height at inclusion. Hearing loss was reported in 6.9% of children and 31.4% of adults. Knee deformities were observed in 75.0% of all patients and osteoarthritis in 51.0% of adult patients. Nephrocalcinosis was observed in 62.1% of children and 33.3% of adults. Earlier start of XLH-related treatment was associated with higher risk of nephrocalcinosis and detection at younger age. Hyperparathyroidism longer than six months was reported in 37.9% of children and 35.3% of adults. This nationwide study confirms the high prevalence of adiposity, hearing loss, bone deformities, osteoarthritis, nephrocalcinosis and hyperparathyroidism in Dutch XLH patients. Early start of XLH-related treatment appears to be beneficial for longitudinal growth but may increase development of nephrocalcinosis.


Assuntos
Raquitismo Hipofosfatêmico Familiar , Perda Auditiva , Hiperparatireoidismo , Hipofosfatemia , Nefrocalcinose , Osteoartrite , Criança , Adulto , Humanos , Raquitismo Hipofosfatêmico Familiar/complicações , Raquitismo Hipofosfatêmico Familiar/genética , Raquitismo Hipofosfatêmico Familiar/diagnóstico , Nefrocalcinose/genética , Nefrocalcinose/complicações , Fatores de Crescimento de Fibroblastos/genética , Hipofosfatemia/epidemiologia , Hipofosfatemia/genética , Fosfatos , Hiperparatireoidismo/complicações , Obesidade/complicações , Perda Auditiva/complicações , Perda Auditiva/tratamento farmacológico
3.
Urol Int ; 100(4): 488-490, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-27577938

RESUMO

Ureteroinguinal herniation is a rare event, usually diagnosed during the surgical repair of inguinal hernias. Here, we describe the first case of a kidney blow out due to this condition in a male infant.


Assuntos
Hérnia Inguinal/cirurgia , Nefropatias/etiologia , Doenças Ureterais/cirurgia , Obstrução Ureteral/cirurgia , Comunicação Interventricular/complicações , Hérnia Inguinal/complicações , Humanos , Hidronefrose/complicações , Lactente , Masculino , Estenose da Valva Pulmonar/complicações , Síndrome de Sotos/complicações , Ureter/patologia , Doenças Ureterais/complicações
5.
J Pediatr Urol ; 11(2): 81.e1-7, 2015 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-25797854

RESUMO

INTRODUCTION: Candida bezoar (CB) is a rare finding in neonates and infants with candiduria, presenting as necrotic debris with proliferating mycelia in the collecting system of the kidney. If initial antifungal medical treatment does not result in clearance of candiduria and disappearance of CB on ultrasound in dilated kidneys, invasive interventions like insertion of nephrostomy tubes (NT) or surgical interventions to drain the kidney are sometimes advocated(.). However, NT placement can be a technical challenge, especially in pre- and dysmature neonates, and NT displacement or obstruction by the CB can lead to suboptimal treatment. Identification of those children who will benefit from invasive renal drainage is important. OBJECTIVE: This study evaluates the management of patients with CB in three tertiary referral hospitals to determine criteria for intervention. MATERIALS AND METHODS: A retrospective multicenter chart analysis was conducted of children with candiduria and ultrasonographic demonstration of CB (diagnosed between March 1995 and August 2012). The indication for invasive renal drainage (if performed) and subsequent clinical outcome, serum creatinine levels and ultrasound findings were assessed. RESULTS: A total of 12 children were included, two of which were premature neonates. Eight children had congenital urogenital anomalies. One older child with acute myeloid leukemia had CB during chemotherapy and one ex-premature developed CB following cerebral candidiasis. All children received systemic antifungal medication; in seven children invasive treatment was added. Indications for invasive treatment were clinical deterioration, progressive renal dilation, pyonephrosis, rising creatinine levels and persistence of CB. Two underwent a Y-cutaneous ureterostomy and nephrostomy tubes were inserted in five children. Percutaneous renal drainage by nephrostomy led to complications in 3 of 6 procedures. In all patients, irrespective of therapeutic modality, follow-up ultrasound demonstrated no de novo changes. No additional parenchymal defects or deterioration of split renal function were seen on DMSA or MAG-3 scan. DISCUSSION: In the literature renal drainage is suggested in case of complete obstruction. However dilatation is a frequent finding in children as part of the congenital renal anomaly and does not necessarily mean that there is obstruction of the urinary tract. Even in children without candida infections the diagnosis of obstruction is not straightforward, while the results of a MAG 3 scan can be obscured by compromised kidney function, parenchymal bacterial infiltration and neonatal immaturity of the kidney. If candiduria and CB persist despite intensive medical treatment, intensive consultation is required before renal drainage, because NT insertion might be a surgical challenge. Complications such as displacement of the NT, urinoma development, or NT obstruction can occur and was seen in three of six procedures. Premature neonates seem to be more prone to complications due to their small anatomical proportions, requiring medical equipment with small diameters prone to displacement and obstruction. Some studies describe successful pharmaceutical management in the majority of patients with CB. Other studies describe unilateral surgical intervention in children with bilateral CB where unilateral drainage did not influence overall renal outcome. This is in line with our results. A limitation of the present study is its retrospective design. In this population, the motivation for invasive renal drainage or conservative management was not well documented in all cases, and was mainly based on clinical and diagnostic parameters like creatinine levels and radiographic findings. CONCLUSION: Renal drainage should be considered in selected cases after failure of systemic antifungal treatment. Inserting and maintaining a nephrostomy tube in young children is associated with a high rate of complications; conservative treatment is likely to be sufficient in the majority of patients with candiduria and CB.


Assuntos
Bezoares/microbiologia , Bezoares/terapia , Candida/isolamento & purificação , Candidemia/terapia , Pelve Renal/diagnóstico por imagem , Antifúngicos/uso terapêutico , Bezoares/diagnóstico por imagem , Candidemia/diagnóstico por imagem , Pré-Escolar , Estudos de Coortes , Terapia Combinada , Drenagem/métodos , Feminino , Humanos , Lactente , Recém-Nascido , Pelve Renal/fisiopatologia , Masculino , Países Baixos , Doenças Raras , Estudos Retrospectivos , Medição de Risco , Centros de Atenção Terciária , Resultado do Tratamento , Ultrassonografia Doppler
6.
Pediatr Blood Cancer ; 56(5): 868-70, 2011 May.
Artigo em Inglês | MEDLINE | ID: mdl-20949597

RESUMO

To investigate the diagnostic significance of a normal urine sediment in the work-up for fever of unknown origin in neutropenia. Urinary tract infection was defined as ≥10(5) urinary pathogens in the absence of another focus. Pyuria was found in only 1/23 neutropenic episodes compared to 21/31 in controls (P < 0.0001).


Assuntos
Neutropenia/complicações , Piúria/diagnóstico , Infecções Urinárias/diagnóstico , Urina/microbiologia , Criança , Feminino , Febre/etiologia , Humanos , Masculino , Neutropenia/microbiologia , Prognóstico , Estudos Retrospectivos , Infecções Urinárias/etiologia
7.
Ned Tijdschr Geneeskd ; 152(5): 275-7, 2008 Feb 02.
Artigo em Holandês | MEDLINE | ID: mdl-18333543

RESUMO

An 8-year-old boy, known with a Diamond-Blackfan anaemia, was admitted to the hospital because of frequent vomiting since 3 days and loin pain. In previous years, he had been admitted several times for the same complaints but no cause had been identified. Ultrasound examination of the abdomen performed at admittance showed dilatation of the left renal pelvis. A renal scintigraphy was discussed with the mother, and she refused the injection of furosemide, because her son was allegedly allergic to furosemide: previous furosemide treatments during blood transfusions for his anaemia had always resulted in stomach-ache and vomiting, which may be attributed, however, to an acute dilatation of the renal pelvis due to the diuretic effect of furosemide. Scintigraphy without furosemide showed a significant obstruction and asymmetric renal function, so a pyeloplasty was performed after which he has been symptom-free. In patients with cyclic vomiting, an intermittent uretero-pelvic junction obstruction should be considered and can only be ruled out when ultrasound during the complaints and renal scintigraphy under adequate hydration and after furosemide are normal.


Assuntos
Hidronefrose/diagnóstico , Hidronefrose/cirurgia , Obstrução Uretral/diagnóstico , Obstrução Uretral/cirurgia , Criança , Diagnóstico Diferencial , Furosemida/efeitos adversos , Humanos , Masculino , Resultado do Tratamento , Procedimentos Cirúrgicos Urológicos , Vômito/etiologia
8.
Ned Tijdschr Geneeskd ; 151(43): 2377-80, 2007 Oct 27.
Artigo em Holandês | MEDLINE | ID: mdl-18019214

RESUMO

Dent's disease is an X-linked disorder, characterized by generalized proximal tubular dysfunction, nephrolithiasis, nephrocalcinosis and the development ofend-stage renal disease, generally occurring after the age of thirty. In the majority of cases, the disease is caused by mutations in the CLCN5-gene. The pathogenesis of the disease has not yet been clarified. Defective recycling of multi-ligand proximal tubular receptors megalin and cubilin is considered responsible for the defective reabsorption of low molecular weight proteins, albumin, hormones and vitamins. Treatment with thiazide diuretics to diminish the hypercalciuria in combination with citrate supplements might prevent renal stone formation and deterioration of renal function. In the laboratory ofDNA diagnostics in the Radboud University Nijmegen Medical Centre, the molecular analysis of the CLCN5-gene in patients suspected with this disease is performed.


Assuntos
Canais de Cloreto/genética , Cromossomos Humanos X , Doenças Genéticas Ligadas ao Cromossomo X/genética , Nefropatias/genética , Monoéster Fosfórico Hidrolases/genética , Análise Mutacional de DNA , Diagnóstico Diferencial , Feminino , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Humanos , Nefropatias/diagnóstico , Masculino , Néfrons/patologia , Néfrons/fisiologia , Síndrome Oculocerebrorrenal/diagnóstico , Síndrome Oculocerebrorrenal/genética , Mutação Puntual , Síndrome
10.
Ned Tijdschr Geneeskd ; 149(39): 2178-82, 2005 Sep 24.
Artigo em Holandês | MEDLINE | ID: mdl-16223078

RESUMO

A 10-year-old Turkish boy with consanguineous parents was presented with a disproportionately short stature and a nephrotic syndrome. The mild form of Schimke's immuno-osseous dysplasia was diagnosed as the common cause. This rare, autosomal recessive osteochondrodysplasia is characterised by spondyloepiphyseal dysplasia, facial dysmorphism, T-cell immunodeficiency and progressive renal failure due to focal segmental glomerulosclerosis. In Schimke's immuno-osseous dysplasia, a severe early-onset form and a milder later-onset form can be distinguished on the basis of the clinical course. The patient was treated by fluid and salt restriction, enalapril and later also losartan, which led to a decrease in the proteinuria and an increase in serum albumin concentration. Two years later, the renal function was still normal.


Assuntos
Osso e Ossos/anormalidades , Síndrome Nefrótica/etiologia , Osteocondrodisplasias/complicações , Osteocondrodisplasias/genética , Estatura/genética , Criança , Consanguinidade , Humanos , Nefropatias/etiologia , Nefropatias/prevenção & controle , Linfopenia/etiologia , Linfopenia/prevenção & controle , Masculino , Síndrome Nefrótica/diagnóstico , Síndrome Nefrótica/terapia
11.
Pediatr Nephrol ; 20(11): 1657-9, 2005 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-15959724

RESUMO

Twin-twin transfusion syndrome (TTTS) is caused by unbalanced shunting of blood between monochorionic twins. It is well known that chronic hypotension and hypovolemia may cause renal insufficiency in the donor twin. The long-term outcome of kidney function after TTTS has not previously been delineated in the literature, however. The aim of this study was to evaluate the long-term outcome of kidney function in children after intrauterine laser treatment for severe TTTS. Eighteen surviving twin pairs after intrauterine laser treatment for TTTS were involved in the study. Their gestational age at birth was 29-39 weeks, their median birth weight was 2050 g, and their median age at evaluation was 3 years 1 month, range 1 year 9 months to 4 years 5 months. Serum creatinine, cystatin C, and beta 2-microglobulin, sodium, potassium, and phosphate excretion, and urine albumin and alpha-1-microglobulin were measured. Creatinine clearance was calculated by use of the Schwartz formula. The laboratory findings for all 36 children were within normal limits. There were no significant differences between donors and recipients. Despite severe alteration of renal function before the laser treatment (anuria-polyuria) no long-term impairment of renal function could be detected in any of the 18 twin pairs.


Assuntos
Transfusão Feto-Fetal/cirurgia , Fotocoagulação a Laser , Desenvolvimento Infantil , Pré-Escolar , Feminino , Transfusão Feto-Fetal/complicações , Seguimentos , Humanos , Falência Renal Crônica/etiologia , Gravidez
12.
Clin Nephrol ; 59(5): 353-9, 2003 May.
Artigo em Inglês | MEDLINE | ID: mdl-12779097

RESUMO

Cystinuria is a hereditary disorder of cystine and dibasic amino acid transport across the luminal membrane of renal tubules and intestine, resulting in recurrent nephrolithiasis. While mutations in the SLC3A1 gene cause type I cystinuria, patients with non-type I cystinuria carry mutations in the SLC7A9 gene. Both gene products form the renal amino acid transporter rBAT/b0,+AT affected in cystinuria. In the present study a total of 59 patients with different ethnic background were screened for sequence variations in SLC7A9, out of these 32 were of German origin. For determination of allele frequencies of detected polymorphisms, 58 healthy German controls were investigated. Molecular-genetic analysis was performed using single-strand conformation polymorphism analysis, restriction assays and sequencing. Allele frequencies were analyzed statistically for the detected polymorphisms. In addition to the 6 already known variants we identified 7 new polymorphisms. Statistical analyses showed a significantly different distribution of alleles between German patients and German controls in case of the polymorphisms c. 147C>T (exon 2), c.386C>T (exon 3), IVS3+22T>G, c.584C>T (exon 4), c.610T>C (exon 4), c.692C>T (exon 5), c.852C>A (exon 6) and c.872C>T (exon 6). In summary, our results show that cystinuria is a complex disease which is not only caused by mutations in SLC7A9 and SLC3A1, but also influenced by other modifying factors such as variants in SLC7A9.


Assuntos
Cistinúria/genética , Polimorfismo Genético , Alelos , Estudos de Casos e Controles , Cistinúria/etnologia , Frequência do Gene , Genótipo , Alemanha , Humanos , Desequilíbrio de Ligação , Dados de Sequência Molecular , Fenótipo
14.
Clin Endocrinol (Oxf) ; 56(2): 231-8, 2002 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-11874415

RESUMO

OBJECTIVE: In girls with congenital adrenal hyperplasia (CAH), genital ambiguity usually leads to a rapid neonatal diagnosis. Rarely, CAH causes complete virilization and male sex assignment with a delayed diagnosis. After being confronted with very specific problems in two of such patients, we collected data of patients with CAH and complete virilization in a nationwide study to delineate specific problems of these rare patients in order to improve their management. DESIGN AND PATIENTS: Through the German Working Group of Paediatric Endocrinology (Arbeitsgemeinschaft Pädiatrische Endokrinologie, APE), questionnaires were sent to all members caring for patients with CAH and complete virilization in their endocrine clinics. Data from 16 patients from 10 paediatric endocrine centres were assessed by questionnaire. RESULTS: The following problems have been encountered. (1) Sex assignment/gender identity: initially all patients had a male sex assignment. Six patients were diagnosed during the first month of life. Five were reassigned to female sex immediately, one at the age of 19 months. Except in one girl demonstrating some tomboyish behaviour, gender role behaviour in these patients did not differ from unaffected girls. Ten patients were diagnosed late at 3.4--7 years of age. In seven patients with a late diagnosis, male sex assignment was maintained; one of them expressed some concerns about living as a male. In three patients late sex reversal was performed, gender identity is very poor in one and new sex assignment is currently under consideration. (2) SURGERY: irrespective of the sex assigned, all patients had between one and three surgical procedures, including clitoris reduction and (repeated) vaginoplasties in patients with female sex assignment. Hysterectomy and ovarectomy were performed in patients with male sex assignment. (3) Short stature: patients with a late diagnosis of CAH had extremely advanced bone ages of +6.3 to +9.5 years, leading to severely reduced final height of 137 to 150 cm in adult patients. Patients tended to follow height percentiles of genetic females. One pubertal patient was suicidal due to short stature. (4) Central precocious puberty (CPP): prolonged exposition to adrenal androgens led to CPP in one patient. He was treated with GnRH analogues until gonadectomy. CONCLUSIONS: Patients with CAH and complete virilization have a high risk of being diagnosed late. There are major problems and uncertainties of the patients' families and the treating physicians concerning gender assignment. Gender identity is disturbed in some patients. In addition, multiple surgical procedures are necessary and short stature as well as central precocious puberty might be important to avoid late sequelae. While some surgical interventions are probably unavoidable, most of these issues could be resolved with an early diagnosis. Thus, especially for these patients, a neonatal screening programme for CAH would be of paramount importance.


Assuntos
Hiperplasia Suprarrenal Congênita/complicações , Virilismo/etiologia , Adolescente , Hiperplasia Suprarrenal Congênita/psicologia , Hiperplasia Suprarrenal Congênita/cirurgia , Estatura , Feminino , Identidade de Gênero , Genitália/cirurgia , Humanos , Histerectomia , Ovariectomia , Puberdade Precoce/etiologia , Virilismo/psicologia , Virilismo/cirurgia
15.
Clin Nephrol ; 58(6): 417-22, 2002 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-12508963

RESUMO

BACKGROUND: As a consequence of more intensified immunosuppression, post-transplant lymphoproliferative disease (PTLD) is increasingly observed in patients after solid-organ transplantation. Beta2-microglobulin, a low-molecular weight protein (MW 11.8 kDa), is produced by all nucleated cells as part of the HLA complex. Its serum concentration is directly correlated with prognosis in patients with lymphatic neoplasms. Like other low-molecular weight proteins, beta2-microglobulin is eliminated by glomerular filtration. This complicates its use as a tumor marker in renal insufficiency. Cystatin C, a low-molecular weight protein of 13.3 kDa, is a new marker of kidney function largely unaffected by extrarenal disease. We, therefore, sought to assess the potential of the beta2-microglobulin/cystatin C ratio (beta2M/Cys) as a marker of lymphoproliferation. PATIENTS AND METHODS: Beta2M/Cys was determined by particle-enhanced immunonephelometry in sera from 132 children with different degrees of renal insufficiency, 5 of whom had lymphoproliferative disease. Renal function was assessed using the Schwartz formula. RESULTS: Beta2M/Cys was constant between 1.2 and 2.4 mg/mg for Schwartz GFR > or = 40 ml/min x 1.73 m2. With lower GFR, beta2M/Cys rose progressively, maximum values being found in the hemodialysis patients (4.85-11.73). Healthy renal transplant recipients had beta2M/Cys comparable to controls. With acute lymphoproliferative disease, all but one patient had significantly elevated beta2M/Cys between 2.68 and 3.68 mg/mg, which returned to normal in remission (1.67-2.35 mg/mg). The sensitivity of a beta2M/Cys ratio > 2.4 mg/mg for the detection of PTLD was 80%, the specificity 100%, positive predictive value 100%, negative predictive value 90%. CONCLUSION: The beta2-microglobulin/cystatin C ratio is a promising parameter of lymphoproliferation in patients with normal or mildly impaired renal function.


Assuntos
Cistatinas/sangue , Transplante de Rim , Transtornos Linfoproliferativos/diagnóstico , Complicações Pós-Operatórias/diagnóstico , Microglobulina beta-2/sangue , Biomarcadores/sangue , Criança , Cistatina C , Feminino , Humanos , Modelos Lineares , Transtornos Linfoproliferativos/sangue , Masculino , Valor Preditivo dos Testes , Sensibilidade e Especificidade
16.
Ren Fail ; 23(3-4): 365-76, 2001.
Artigo em Inglês | MEDLINE | ID: mdl-11499552

RESUMO

The determinants of glomerular capillary wall (GCW) permeability to proteins have been subject of controversial discussion. To study this question we have developed a modified isolated perfused rat kidney model in which tubular transport processes are completely blocked by perfusion fixation with glutaraldehyde. This model allows to directly titrate the charge density of the GCW using albumin solutions buffered over a wide pH-range, a manipulation that cannot be performed in the intact kidney. Analyzing the results of these experiments helped to determine a fixed charge density of the GCW of 43 mEq/L. In the present work, we used the isolated perfused fixed rat kidney model to study the influence of this fixed charge on the transglomerular passage of proteins. To do this, the fixed kidney was perfused with albumin solutions containing different isoforms of horseradish peroxidase. The lowest sieving coefficient was obtained with the acidic isoform (0.035+/-0.008, n = 7), while the isoforms at pI 6.85 and 8.45 showed higher sieving coefficients (0.059+/-0.008, n = 7 and 0.090+/-0.008, n = 4, respectively). The highest sieving coefficient (0.59+/-0.031, n = 6) was observed in perfusion experiments of the fixed kidney with cationic HRP (pI > or = 9.30). However, when comparing the sieving coefficients, the highly cationic isoform was excluded because it has a lower molecular weight than the other isoforms. The sieving coefficients of the other isoforms were significantly different (p < 0.05. ANOVA, Scheffé test). In conclusion, the presence of a discrete (even if lower than previously thought) "fixed" charge on the GCW of 43 mEq/L restricts the transglomerular passage of isoforms of horseradish peroxidase by a factor 2-3. These results imply that the influence of charge selectivity has been overstated in the literature.


Assuntos
Albuminas/metabolismo , Glomérulos Renais/metabolismo , Animais , Permeabilidade Capilar , Taxa de Filtração Glomerular , Glutaral/metabolismo , Peroxidase do Rábano Silvestre/metabolismo , Técnicas In Vitro , Rim/irrigação sanguínea , Rim/metabolismo , Masculino , Ratos , Ratos Sprague-Dawley
17.
Ren Fail ; 23(3-4): 431-8, 2001.
Artigo em Inglês | MEDLINE | ID: mdl-11499558

RESUMO

BACKGROUND: Cystatin C (MW 13kDa) serum concentration reflects glomerular filtration rate better than creatinine. Like other low-molecular weight proteins it is not eliminated by dialysis. Still, cystatin C serum concentrations do not rise progressively in end-stage renal failure and rarely exceed 10 mg/L (i.e. 8 times the upper limit of normal). OBJECTIVE: To study cystatin C kinetics in a rat model of end-stage renal failure. METHODS: Sequential bilateral nephrectomy was performed seven days apart in 13 male Sprague-Dawley rats as described by Levine and Saltzman. Serum cystatin C (Cystatin C PET-kit, DAKO), creatinine and total protein were measured in daily intervals after the second nephrectomy. Linearity of the anti-human cystatin C assay for rat cystatin C was tested using dilutions of uremic rat serum. Rats were sacrificed for signs of severe uremia on days 10 (n=5), 11 (n=4) and 12 (n = 5). RESULTS: At baseline, mean (+/- SE) cystatin C was 1.59+/-0.041 mg/L, creatinine 19.6+/-1.2 micromol/L. Following bilateral nephrectomy, cystatin C immediately rose to 3.82+/-0.15 mg/L, creatinine to 312+/-20 micromol/L. During the following days, cystatin C concentration stabilized to 4 mg/L approximately whereas creatinine continued to rise to 822+/-185 kmol/L on day 12. Correction for the decrease in serum total protein concentration from 48.9+/-2.3 g/L to 37.4+/-3.6 g/L did not alter these results. CONCLUSION: The kinetics of cystatin C and creatinine in this rat model of end-stage renal failure are in accordance with human data suggesting a change in cystatin C production or extra-renal elimination in severe chronic uremia.


Assuntos
Cistatinas/sangue , Inibidores de Cisteína Proteinase/sangue , Taxa de Filtração Glomerular , Falência Renal Crônica/sangue , Animais , Creatinina/sangue , Cistatina C , Falência Renal Crônica/metabolismo , Masculino , Modelos Animais , Nefrectomia , Valor Preditivo dos Testes , Ratos , Ratos Sprague-Dawley
18.
Am J Obstet Gynecol ; 185(2): 468-75, 2001 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-11518911

RESUMO

OBJECTIVES: Cystatin C and beta(2)-microglobulin are established serum markers of renal function in children and adults. In contrast to creatinine, diaplacental exchange is minimal. The aim of the study was to establish reference values in fetal serum and to test their efficiency in predicting postnatal kidney function. STUDY DESIGN: This was a prospective noninterventional study measuring cystatin C and beta(2)-microglobulin by particle-enhanced immunoturbidimetry in excess serum from 129 cordocenteses performed in 84 fetuses. Reference intervals (mean +/- 1.96 SD) were calculated in a subgroup of 54 fetuses without evidence of kidney disease, and these reference values were evaluated in 75 sera from 55 fetuses. RESULTS: Mean cystatin C was 1.66 +/- 0.202 mg/L (upper limit 2.06), and mean beta(2)-microglobulin was 4.25 +/- 0.734 mg/L. Unlike cystatin C, beta(2)-microglobulin decreased significantly with gestational age so that the upper reference limit was 7.19-0.052 x gestational age in weeks. beta(2)-Microglobulin had higher sensitivity (90.0% vs 63.6%) and cystatin C a higher specificity (91.8% vs. 85.5%) for the prediction of impaired renal function; diagnostic efficiency was equal (87.6% vs. 86.1%). Fetuses with impaired renal function at birth or who were aborted for renal malformations had higher cystatin C concentrations than those in a control group. beta(2)-Microglobulin was increased only in fetuses who were aborted. CONCLUSION: Fetal serum cystatin C and beta(2)-microglobulin concentrations may be useful predictors of postnatal kidney function.


Assuntos
Cistatinas/sangue , Sangue Fetal/química , Nefropatias/diagnóstico , Diagnóstico Pré-Natal , Microglobulina beta-2/sangue , Cordocentese , Creatinina/sangue , Cistatina C , Feminino , Idade Gestacional , Humanos , Nefropatias/sangue , Gravidez , Valores de Referência
19.
Pediatr Nephrol ; 16(4): 315-7, 2001 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-11354773

RESUMO

Central diabetes insipidus is clinically masked in dialysis patients. We report a 12-year-old girl receiving a living-related donor graft for renal failure from Alport syndrome, in whom a craniopharyngioma had been resected 6 months before transplantation. Pretransplant evaluation had documented central hypothyroidism, growth hormone deficiency, and presumptive hypogonadotropic hypogonadism. The corticotropin-releasing factor test had been normal. Four hours after transplantation, urine output exceeded 1,000 ml/h without diuretic therapy. Serum sodium concentration was 155 mmol/l, serum osmolality 333 mmol/kg, and plasma antidiuretic hormone 4.9 ng/l, while urine osmolality was 233 mmol/kg. Desmopressin acetate was started by continuous intravenous infusion at 1 microgram/day. Serum electrolytes rapidly normalized, urine output stabilized at 2 l/day. The patient was discharged 4 weeks after transplantation with good allograft function, receiving intranasal desmopressin acetate 10 micrograms twice daily. Pre-existing central diabetes insipidus is unmasked after successful kidney transplantation, leading to rapid dehydration and hypernatremia, which can be prevented by prompt institution of desmopressin therapy.


Assuntos
Diabetes Insípido Neurogênico/complicações , Diabetes Insípido Neurogênico/tratamento farmacológico , Falência Renal Crônica/complicações , Falência Renal Crônica/cirurgia , Transplante de Rim , Criança , Craniofaringioma/complicações , Craniofaringioma/diagnóstico , Craniofaringioma/cirurgia , Desamino Arginina Vasopressina/uso terapêutico , Feminino , Humanos , Doadores Vivos , Imageamento por Ressonância Magnética , Neoplasias Hipofisárias/complicações , Neoplasias Hipofisárias/diagnóstico , Neoplasias Hipofisárias/cirurgia , Fármacos Renais/uso terapêutico
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