Detailed clinical manifestations at onset and prognosis of neonatal-onset Denys–Drash syndrome and congenital nephrotic syndrome of the Finnish type

Nishi, Kentaro; Inoguchi, Tomohiro; Kamei, Koichi; Hamada, Riku; Hataya, Hiroshi; Ogura, Masao; Mai, Sabine; Yoshioka, Takako; Ogata, Kentaro; Ito, Shuichi; Nakanishi, Koichi; Nozu, Kandai; Hamasaki, Yuko; Ishikura, Kenji

doi:10.1007/s10157-019-01732-7

Cited by 20 publications

(10 citation statements)

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“…Table 1 shows the clinical characteristics of the six patients with DDS. The patients (Cases 1-4) in the present study overlapped with those in our previously published report (doi: 10.1007/s10157-019-01732-7) (Nishi et al 2019). None received the diagnosis of neonatal asphyxia.…”

Section: Patient Characteristicssupporting

confidence: 74%

“…Neonatal onset DDS should be considered in the differential diagnosis of congenital nephrotic syndrome (Nishi et al 2019). Frequent albumin infusions such as those given to patients with congenital nephrotic syndrome of the Finnish type will exacerbate hypertension in a patient with neonatal onset DDS.…”

Section: Discussionmentioning

confidence: 99%

“…In particular, neonatal-onset DDS rapidly progresses to ESRD; our previous study reported the median of six days from onset to ESRD progression (Nishi et al 2019). Diffuse mesangial sclerosis and immature tissue, including glomeruli and tubules, in the renal pathological findings of neonatal-onset DDS may be related to the rapid progression to ESRD (Nishi et al 2019). Although renal failure is the most common cause of death in DDS, the prognosis is not necessarily bad if appropriate renal replacement therapy is performed (Nishi et al 2019).…”

Section: Introductionmentioning

confidence: 97%

“…The nephropathy in DDS generally develops between the first months of life and 2 years of age and pro-gresses to end-stage renal disease (ESRD) before 4 years of age (Mueller 1994;Niaudet and Gubler 2006). In particular, neonatal-onset DDS rapidly progresses to ESRD; our previous study reported the median of six days from onset to ESRD progression (Nishi et al 2019). Diffuse mesangial sclerosis and immature tissue, including glomeruli and tubules, in the renal pathological findings of neonatal-onset DDS may be related to the rapid progression to ESRD (Nishi et al 2019).…”

Section: Introductionmentioning

confidence: 99%

“…Diffuse mesangial sclerosis and immature tissue, including glomeruli and tubules, in the renal pathological findings of neonatal-onset DDS may be related to the rapid progression to ESRD (Nishi et al 2019). Although renal failure is the most common cause of death in DDS, the prognosis is not necessarily bad if appropriate renal replacement therapy is performed (Nishi et al 2019). A unilateral or bilateral Wilms tumor develops in 74% of DDS cases, the average age at presentation being 1.65 years (Mueller 1994).…”

Section: Introductionmentioning

confidence: 99%

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Refractory Hypertension in Infantile-Onset Denys-Drash Syndrome

Nishi

Kamei

Ogura

et al. 2020

Tohoku J. Exp. Med.

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Denys-Drash syndrome is characterized by progressive nephropathy, gonadal dysgenesis, and Wilms tumor caused by a WT1 gene mutation. Infants with Denys-Drash syndrome frequently experience severe hypertension, but detailed clinical manifestations have yet to be clarified. Cases of infantile-onset Denys-Drash syndrome with severe hypertension at our hospital were retrospectively analyzed and the pathogenesis of hypertension was investigated. Six infants who received the diagnosis of Denys-Drash syndrome at the median age of 10 days (range: 2-182 days) were enrolled. Five infants had the complication of severe hypertension within a few days of diagnosis. All the patients showed rapid progression to end-stage renal disease and urgently required dialysis due to anuria/oliguria and hypervolemia with a median duration of 7.5 days (range: 0-17 days) on the day after diagnosis. Even under dialysis, all the patients continued to need antihypertensive treatment. Five patients underwent a preventive nephrectomy for Wilms tumor, and one patient underwent a nephrectomy due to progression to Wilms tumor. Two patients developed hypotension after a nephrectomy. The main causes of hypertension were hypervolemia in the predialysis stage, renin-associated hypertension in the dialysis stage, and multiple factors, including increased plasma catecholamine-associated hypertension in the postnephrectomy dialysis stage. At last the follow-up after bilateral nephrectomy, four of the five patients required antihypertensive treatment. Not all the patients showed target organ complications caused by hypertension. Severe hypertension is a common complication of infantile-onset Denys-Drash syndrome. The possibility of hypotension after nephrectomy should be considered in patients with Denys-Drash syndrome.

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Section: Patient Characteristicssupporting

confidence: 74%

Section: Discussionmentioning

confidence: 99%