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1.
J Clin Res Pediatr Endocrinol ; 13(3): 347-352, 2021 08 23.
Artigo em Inglês | MEDLINE | ID: mdl-32840097

RESUMO

We describe a 46,XX girl with Denys-Drash syndrome, showing both kidney disease and genital abnormalities, in whom a misdiagnosis of hyperandrogenism was made. A 15 year-old girl was affected by neonatal nephrotic syndrome, progressing to end stage kidney failure. Hair loss and voice deepening were noted during puberty. Pelvic ultrasound and magnetic resonance imaging showed utero-tubaric agenesis, vaginal atresia and urogenital sinus, with inguinal gonads. Gonadotrophin and estradiol levels were normal, but testosterone was increased up to 285 ng/dL at Tanner stage 3. She underwent prophylactic gonadectomy. Histopathology reported fibrotic ovarian cortex containing numerous follicles in different maturation stages and rudimental remnants of Fallopian tubes. No features of gonadoblastoma were detected. Unexpectedly, testosterone levels were elevated four months after gonadectomy (157 ng/dL). Recent medical history revealed chronic daily comsumption of high dose biotin, as a therapeutic support for hair loss. Laboratory immunoassay instruments used streptavidin-biotin interaction to detect hormones and, in competitive immunoassays, high concentrations of biotin can result in false high results. Total testosterone, measured using liquid chromatography tandem mass spectrometry, was within reference intervals. Similar testosterone levels were detected on repeat immunoassay two weeks after biotin uptake interruption. Discordance between clinical presentation and biochemical results in patients taking biotin, should raise the suspicion of erroneous results. Improved communication among patients, health care providers, and laboratory professionals is required concerning the likelihood of biotin interference with immunoassays.


Assuntos
Biotina/efeitos adversos , Síndrome de Denys-Drash/genética , Suplementos Nutricionais/efeitos adversos , Adolescente , Castração , Síndrome de Denys-Drash/complicações , Síndrome de Denys-Drash/diagnóstico , Síndrome de Denys-Drash/terapia , Erros de Diagnóstico , Feminino , Humanos , Hiperandrogenismo/sangue , Hiperandrogenismo/diagnóstico , Hiperandrogenismo/cirurgia , Imunoensaio , Falência Renal Crônica/etiologia , Valor Preditivo dos Testes , Testosterona/sangue
2.
Clin Exp Nephrol ; 23(8): 1058-1065, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30963316

RESUMO

BACKGROUND: Neonatal-onset Denys-Drash syndrome (NODDS) is a distinctive clinical entity and has a poor renal and life outcome. Early diagnosis of NODDS is important for managing disorders of sexual development and determining assigned gender. Although patients with NODDS and congenital nephrotic syndrome of the Finnish type (CNF) present with nephrotic syndrome in neonatal life or infancy, the clinical course of NODDS and factors distinguishing these diseases at onset is unknown. METHODS: We performed a retrospective cohort study of patients with NODDS and CNF between 1997 and 2017. Patients with nephrotic syndrome and WT1 or NPHS1 mutations with neonatal onset (within 30 days) were eligible. RESULTS: We studied eight patients with NODDS and 15 with CNF. The median serum creatinine level at onset in the NODDS group was significantly higher (1.85 mg/dL) than that in the CNF group (0.15 mg/dL; P = 0.002). The median placental/fetal weight ratio in the NODDS and CNF group was 41.8% and 21.0%, respectively (P = 0.001). Kaplan-Meier analysis showed that the median number of days for progression to ESRD from onset in the NODDS and CNF groups was 6 and 910 days, respectively (P < 0.001). All patients in the NODDS group were alive at follow-up. Only one patient in the CNF group died of cardiac complications during follow-up. CONCLUSION: CNS, renal dysfunction at onset, and a relatively large placenta are prominent signs of NODDS. Prognosis for patients with NODDS is satisfactory if appropriate and active management is performed.


Assuntos
Síndrome de Denys-Drash/complicações , Falência Renal Crônica/etiologia , Síndrome Nefrótica/complicações , Adolescente , Idade de Início , Criança , Pré-Escolar , Síndrome de Denys-Drash/diagnóstico , Síndrome de Denys-Drash/genética , Síndrome de Denys-Drash/terapia , Progressão da Doença , Predisposição Genética para Doença , Humanos , Lactente , Recém-Nascido , Falência Renal Crônica/diagnóstico , Falência Renal Crônica/terapia , Proteínas de Membrana/genética , Mutação , Síndrome Nefrótica/diagnóstico , Síndrome Nefrótica/genética , Síndrome Nefrótica/terapia , Fenótipo , Diálise Renal , Estudos Retrospectivos , Fatores de Risco , Tóquio , Proteínas WT1/genética
3.
Ren Fail ; 33(9): 910-4, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21851196

RESUMO

Denys-Drash syndrome (DDS) is characterized by early onset of nephropathy, genitalia malformation, and Wilms' tumor, where WT1 is the gene that is mutated in most patients. We report two de novo mutations in WT1 found in two Chinese DDS children. Patient 1 was a boy with complete DDS who was presented with progressive nephropathy, unilateral Wilms' tumor, bilateral cryptorchidism, and renal histology showing diffuse mesangial sclerosis (DMS). When the patient was 24 months old, a liver ultrasound showed multiple nodules, and the patient died of pneumonia 1 month later. The de novo novel mutation, c.1130A>T (p.His377Leu), was identified; the mutation replaces histidine with leucine in the zinc finger (Znf) structure and is predicted to change the local spatial structure of the protein. Patient 2 had 46 XX with incomplete DDS and presented with normal genitalia, proteinuria, unilateral Wilms' tumor with renal pedicle lymph node metastasis, and renal histology showing DMS. Her renal function remains normal after 48 months. A de novo mutation, c.1168C>T (p.Arg390Term), was identified; it truncates 60 amino acids at the C terminus, and it is predicted to result in loss of the DNA-binding capacities of the WT1 protein.


Assuntos
Síndrome de Denys-Drash/genética , Síndrome de Denys-Drash/terapia , Predisposição Genética para Doença , Neoplasias Renais/genética , Mutação , Proteínas WT1/genética , Biópsia por Agulha , Quimioterapia Adjuvante , Pré-Escolar , China , Síndrome de Denys-Drash/patologia , Evolução Fatal , Feminino , Seguimentos , Humanos , Imuno-Histoquímica , Lactente , Neoplasias Renais/diagnóstico , Neoplasias Renais/cirurgia , Masculino , Estadiamento de Neoplasias , Nefrectomia/métodos , Medição de Risco , Resultado do Tratamento
4.
Pediatr Blood Cancer ; 52(1): 55-9, 2009 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-18816692

RESUMO

BACKGROUND: Children with WT1 gene-related disorders such as Denys-Drash syndrome (DDS) and Frasier syndrome (FS) are at increased risk of Wilms tumor and end-stage renal disease. We investigated whether Wilms tumors in these patients displayed a specific phenotype or behavior and whether nephron-sparing surgery was beneficial. PROCEDURE: We retrospectively studied all patients with DDS, FS, or other WT1 mutations treated at our institutions between 1980 and 2007. RESULTS: We identified 20 patients, of whom 18 had benign or malignant tumors. Wilms tumors occurred in 15 patients, being unilateral in 10 and bilateral in 5 (20 tumors). Median age at Wilms tumor diagnosis was 9 months. No patients had metastases. According to the International Society of Pediatric Oncology Working Classification, there were 19 intermediate-risk tumors and one high-risk tumor; no tumor was anaplastic. In patients with nephropathy who underwent unilateral nephrectomy for Wilms tumor or nephron-sparing surgery for bilateral Wilms tumor, mean time to dialysis was 11 or 9 months, respectively. Other tumors included three gonadoblastomas (in two patients), one retroperitoneal soft-tissue tumor, and one transitional cell papilloma of the bladder. Two patients, both with stage I Wilms tumor, died from end-stage renal disease-related complications. The median follow-up time for the 18 survivors was 136 months (range, 17-224 months). CONCLUSION: Most Wilms tumors in children with WT1-related disorders were early-stage and intermediate-risk tumors, with a young age at diagnosis. In patients without end-stage renal disease, nephron-sparing surgery should be considered for delaying the onset of renal failure.


Assuntos
Síndrome de Denys-Drash/terapia , Síndrome de Frasier/terapia , Tumor de Wilms/terapia , Adolescente , Criança , Pré-Escolar , Síndrome de Denys-Drash/complicações , Gerenciamento Clínico , Síndrome de Frasier/complicações , Humanos , Falência Renal Crônica/prevenção & controle , Nefrectomia , Estudos Retrospectivos , Tumor de Wilms/complicações , Adulto Jovem
7.
J Urol ; 174(5): 1972-5, 2005 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-16217371

RESUMO

PURPOSE: We sought to assess accurately the full spectrum of end stage renal disease (ESRD) in Wilms tumor survivors by combining the unique resources of the National Wilms Tumor Study Group (NWTSG) and the United States Renal Data System (USRDS), and to confirm preliminary reports of an increased incidence of ESRD in patients with the Wilms tumor-aniridia syndrome (WAGR). MATERIALS AND METHODS: ESRD was ascertained in 5,910 patients enrolled in NWTSG studies during 1969 to 1994 by record linkage to USRDS and by direct followup. Cumulative ESRD incidence was estimated accounting for intercurrent mortality. RESULTS: Of 115 cases of ESRD 10 (9%) were ascertained by the NWTSG alone, 13 (11%) by USRDS alone and 92 (80%) by both. Cumulative incidence of ESRD at 20 years from diagnosis of unilateral Wilms tumor was 74% for 17 patients with the Denys-Drash syndrome, 36% for 37 patients with WAGR, 7% for 125 male patients with hypospadias or cryptorchidism (genitourinary [GU] anomalies) and 0.6% for 5,347 patients with none of these conditions. The incidence of ESRD after diagnosis of bilateral Wilms tumor was 50% for the Denys-Drash syndrome (6 patients), 90% for WAGR (10), 25% for GU anomaly (25) and 12% for other (409). ESRD in patients with WAGR or GU anomalies tended to occur relatively late, often during or after adolescence. CONCLUSIONS: The risk of ESRD is remarkably low for the majority of patients with Wilms tumor. However, those with WAGR or associated GU anomalies are at higher risk and should be screened indefinitely to facilitate prospective treatment of impaired renal function.


Assuntos
Causas de Morte , Falência Renal Crônica/epidemiologia , Tumor de Wilms/epidemiologia , Criança , Pré-Escolar , Estudos de Coortes , Terapia Combinada , Intervalos de Confiança , Síndrome de Denys-Drash/diagnóstico , Síndrome de Denys-Drash/epidemiologia , Síndrome de Denys-Drash/terapia , Feminino , Humanos , Falência Renal Crônica/diagnóstico , Falência Renal Crônica/terapia , Neoplasias Renais/diagnóstico , Neoplasias Renais/epidemiologia , Neoplasias Renais/terapia , Masculino , Nefrectomia/métodos , Probabilidade , Prognóstico , Radioterapia/métodos , Sistema de Registros , Diálise Renal/métodos , Estudos Retrospectivos , Índice de Gravidade de Doença , Análise de Sobrevida , Estados Unidos/epidemiologia , Síndrome WAGR/diagnóstico , Tumor de Wilms/diagnóstico , Tumor de Wilms/terapia
8.
Urologe A ; 44(10): 1197-200, 2005 Oct.
Artigo em Alemão | MEDLINE | ID: mdl-16003530

RESUMO

Denys-Drash syndrome is a rare symptom complex associated with obligatory childhood nephrotic syndrome, male pseudohermaphroditism, and Wilms' tumor. The etiology of Denys-Drash syndrome is attributed to a mutation of the WT1 gene. We report on two cases of Deny-Drash syndrome confirmed by genetic testing. Rapidly evolving terminal renal insufficiency was detected in both patients necessitating bilateral nephrectomies with prophylactic intent. In one of the patients, a Wilms' tumor had already been verified in one kidney so that chemotherapy had to be initiated.The risk of Wilms' tumor is very high in patients with a WT1 mutation, which leads to the need for removal of both kidneys during or before transplantation. It would be important to perform a diagnostic work-up for WT1 gene mutation in children who develop renal failure in the 1st year of life.


Assuntos
Síndrome de Denys-Drash/diagnóstico , Síndrome de Denys-Drash/genética , Testes Genéticos , Proteínas WT1/genética , Síndrome de Denys-Drash/terapia , Feminino , Humanos , Lactente , Masculino
9.
Med Wieku Rozwoj ; 6(2): 89-98, 2002.
Artigo em Polonês | MEDLINE | ID: mdl-12426454

RESUMO

In strict sense, the term "congenital nephrotic syndrome" (CNS) refers to those cases of the nephrotic syndrome in which clinical symptoms, e.g. massive proteinuria, hypoalbuminemia and oedema are present at birth. However, the term is often extended to babies presenting with nephrotic syndrome before 3 months of age in whom proteinuria is likely to be present earlier, before the signs of the nephrotic syndrome become clinically manifest. The most common and probably the most severe type of CNS is the congenital nephrotic syndrome of the Finnish type (CNF), which is considered as the prototype of CNS. On the basis of this syndrome the clinical course, diagnosis and complex treatment strategy are described. A well-documented case of Denys-Drash syndrome - a rare type of congenital nephrotic syndrome is also presented.


Assuntos
Síndrome de Denys-Drash , Síndrome Nefrótica , Síndrome de Denys-Drash/diagnóstico , Síndrome de Denys-Drash/terapia , Diagnóstico Diferencial , Evolução Fatal , Feminino , Humanos , Recém-Nascido , Síndrome Nefrótica/congênito , Síndrome Nefrótica/diagnóstico , Síndrome Nefrótica/terapia
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