Denys-Drash syndrome, Septated Vagina And Low Level Of Anti-mullerian Hormone In male neonate

There is a wide variety of genital abnormalities observed in patients with Denys-Drash syndrome (DDS). WT1 is thought to influence the genes related to genital development and mutations in this gene have been associated with DDS. DDS should be considered in the differential diagnosis of newborns with genital anomalies. In contrast to other conditions with 46,XY disorders of sex development, individuals with DDS often have duplicated genital organs (a double vagina, cervix or uterus). A double uterus has not yet been reported with 1390G>A (Arg464 Asn) mutation. However, duplicated genitals have been reported with other genetic mutations in patients with DDS. The duplicated genitals in DDS may be associated with low anti-Mullerian hormone (AMH) secretion. Measurement of the AMH levels may add to our understanding of variations in genital development and their abnormalities in disorders such as DDS. In conclusion, this is first case of low level of AMH and double uterus in 1390G>A (Arg464 Asn) mutations of DDS male.

Clinical and pathological features of Denys-Drash syndrome: report of 3 cases / 中华儿科杂志

<p><b>OBJECTIVE</b>To study the clinical and pathological features of Denys-Drash syndrome (DDS).</p><p><b>METHOD</b>Three DDS cases who were treated in our department from December 2009 to June 2011 were subjected to this study by reviewing of literature.</p><p><b>RESULT</b>Both case 1 and case 2 were female, with karyotype 46, XX. Case 3 was male with bilateral cryptorchidism. The ages of nephropathy onset of the three cases were 1 year and 9 months, 2 years and 8 moths, and 3 months respectively. Proteinuria in case 2 and case 3 were evidenced to be resistant to steroid. Case 1 was partially responsive to tacrolimus, plasma albumin and cholesterol were improved, although proteinuria was persistent after Tacrolimus was administered. Remission was achieved in case 2 after administration of cyclosporine A and later tacrolimus, and her renal function remains normal till present (4 years and 9 months). Residue renal histology revealed diffused mesangial sclerosis (DMS) in all three patients. All of the three patients had developed right unilateral Wilms tumor. A novel WT1 missense mutation exon 9 c.1213C > G was detected in case 1. WT1 exon 9 c.1168C > T nonsense mutation and exon 8 c.1130A > T missense mutation were detected in case 2 and case 3, respectively.</p><p><b>CONCLUSION</b>The clinical manifestation of nephropathy in DDS is variable. The majority present with early onset nephropathy and reach renal failure before the age of 4 years. But in a few patients, nephropathy can also be present much later and progress slowly. Proteinuria in DDS is resistant to steroid but is responsive to calcineurin inhibitors, including Cyclosporine A. The effectiveness of tacrolimus was also observed in this study. DDS is evidently caused by WT1 mutation. DMS is the characteristic renal pathological change in DDS.</p>

Clinical Evaluation of Nephrotic Syndrome Manifesting in the First Year of Life

PURPOSE: This study was performed to report the diagnosis and treatment of nephrotic syndrome manifesting in the first year of life. METHODS: We retrospectively reviewed the clinical data with chart review in 7 patients who were diagnosed as nephrotic syndrome manifesting in the first year of life from 1996 to 2007. RESULTS: Three patients had congenital nephrotic syndrome, the other 4 patients had infantile nephrotic syndrome. Their ages ranged from birth to 11 months and male to female ratio was 1 to 6. Renal biopsies were done in 6 patients. One patient had Finnish type congenital nephrotic syndrome, 2 patients had diffuse mesangial sclerosis, 2 patients had focal segmental glomerulosclerosis and 1 patient had minimal change disease. Genetic analyses of NPHS2, PLCE1, and WT1 were done in 4 patients and 2 of them had WT1 mutation. Among 3 patients with congenital nephrotic syndrome, 1 patient was diagnosed as congenital nephrotic syndrome of Finnish type and the other 2 patients were diagnosed as Denys-Drash syndrome. All of the patients with congenital nephrotic syndrome died due to sepsis. Among 4 patients with infantile nephrotic syndrome, 2 patients died and 1 had remission, another patient progressed to end stage renal disease. CONCLUSION: Most of nephrotic syndrome manifesting in the first year was hereditary renal disease. Patients with nephrotic syndrome manifesting in the 3 month of life had poorer prognosis and needed more aggressive management including early dialysis and renal transplantation might be considered compared with infantile nephrotic syndrome. Further genotype-phenotype correlation studies are needed.

Síndrome de Denys-Drash: presentación de un caso / Denys-Drash's syndrome: a case report

El síndrome de Denys-Drash se caracteriza por pseudohemafroditismo masculino, tumor de Wilms y glomerulopatía con rápida progresión a la insuficiencia renal terminal, es producido por una mutación en el gen supresor TW1 localizado en el cromosoma 11p 13. La lesión glomerular se caracteriza por una esclerosis mesangial difusa. Reportamos un caso con genitales ambiguos, cariotipo 46 XY, síndrome nefrótico congénito a los 7 días de nacido, con rápida progresión a la insuficiencia renal terminal. Se hizo necesaria la diálisis peritoneal, y murió al mes de edad por sepsis generalizada. En el análisis del tejido renal se demuestra la esclerosis mesangial difusa

Diagnósticos de enfermería identificados en un niño con el síndrome de Denys Drash / Nursing diagnoses identified in a child with the Denys Drash syndrome

Se realiza el estudio desde el punto de vista de enfermería de un paciente con el síndrome de Denys Drash. Fueron seleccionados los principales problemas presentados por el paciente durante su hospitalización y se consultaron distintos diagnósticos de la NANDA. Teniendo en cuenta que la familia tenía dificultades para adaptarse a esta nueva situación se seleccionaron 2 que dieron respuesta satisfactoria, hasta el momento de la culminación del protocolo. El método utilizado durante la investigación fue observación directa en su modalidad de participante, se consultó la historia clínica y se seleccionaron los datos más interesantes. Se revisaron los diagnósticos, expectativas y órdenes impartidas por el personal de enfermería. Del trabajo realizado se obtuvieron resultados satisfactorios, siempre recordando la entidad y su pronóstico evolutivo, después de finalizada la investigación se cumplió el pronóstico descrito(AU)

The study of a patient with the Denys Drash syndrome was implemented from the standpoint of nursing. The main problems presented by the patients during his hospitalization were selected and different NANDA diagnoses were consulted. Taking into account that the family had difficulties to adapts to this new situation 2 members who answered in a satisfactory way were chosen, until the end of the protocol. The method used during the research was direct observation in his modality of participant, the medical history was consulted and the most interesting data were selected. The diagnoses, expectations and orders given by the nursing staff were reviewed. Satisfactory results were obtained from the work performed, always remembering the entity and its evolutive prognosis, after concluded the reseach the prognosis described became a reality(AU)

A Case of Congenital Nephrotic Syndrome due to Diffuse Mesangial Sclerosis

Diffuse mesangial sclerosis (DMS) is one of the underlying pathology of congenital and infantile nephrotic syndrome. Infants with DMS develop nephrotic syndrome before 2 years of age and progress to end stage renal disease within 3 years of age. The authors experienced a case of isolated DMS in a 4-month-old male infant who had nephrotic syndrome for 1 month. The diagnosis was confirmed on the basis of clinical, laboratory, pathological and molecular genetic findings. This is the 3rd case report of DMS in our country and the 1st case report of isolated DMS confirmed by molecular genetic study.

Congenital Nephrotic Syndrome / 대한신장학회잡지

Congenital nephrotic syndrome(CNS) is a rare disease defined by nephrotic syndrome at birth or within the 1st year of life. This study is performed to investigate a classification based on clinicopathology and to evaluate the clinical course and prognosis according to types of CNS. We performed retrospective clinical study with chart review in 8 patients who were diagnosed as CNS from 1980 to 1995. The results were as follows: Their ages at the onset of illness ranged from birth to 7 months (median 2.2 months) and there were 7 males and 1 female. There were proteinuria, hypoalbuminemia and edema in all cases, accompanied with ascites(7cases), hematuria(5cases), hepatosplenomegaly(2cases), umbilical hernia(1case) and inguinal hernia(1case). A classification of these based on clinicopathology showed CNS of Finnish type in 2 patients, congenital syphilitic nephrotic syndrome in 2, mesangial glomerulosclerosis, minimal change disease, Drash syndrome and undefined CNS in 1 each. Of the 8 patients with CNS, 3 died of sepsis and renal failure, 1 responded to steroid and cyclosporin therapy and is alive at 20 months, 1 responded to penicillin, 1 discharged voluntarily, and 2 were lost to follow-up. In conclusion, it had been considered that all forms of CNS except the secondary ones have a very poor prognosis. But if the appropriate management including early renal transplantation is established under the definite diagnosis which is based on clinicopathology, we can expect long term survival, normal growth and development for the child of CNS.

A Case of Incomplete Drash Syndrome

Drash syndrome, which was first reported by Denys et al. in 1967 is a complex disorder which associates a nephropathy, Wilms' tumor, and male pseudohermaphroditism. The common denominator is a nephropathy. The nephropathy may be associated with either genital abnormalities or Wilms' tumor, and these associations are called incomplete form of Drash syndrome. This syndrome appears early in life and the first sign usually is genital ambiguity. The nephropathy presents with proteinuria, hematuria and hypertension, and eventually progresses to end stage renal failure. Renal biopsy may reveal a variety of glomerular and interstitial changes. Wilms' tumor may appear as s mass on ultrasound or it may not be recognized until nephrectomy or even autopsy. We report on a boy with nephropathy and genital abnormalities. A nephrotic syndrome with hypertension was present when first seen at 15 days of age. The karyotype was 46, XY and external genitalia was ambiguous. The nephrotic syndrome and signs of renal insufficiency persisted and he died at the age of 40 days. Histopathologic findings of kidney at autopsy revealed those of diffuse mesangial sclerosis. The case was presented with brief review of literatures.