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


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Article Info

DATE

2019-04-08

AUTHORS

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

ABSTRACT

BackgroundNeonatal-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.MethodsWe 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.ResultsWe 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.ConclusionCNS, 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. More... »

PAGES

1058-1065

References to SciGraph publications

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  • Journal

    TITLE

    Clinical and Experimental Nephrology

    ISSUE

    8

    VOLUME

    23

    Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s10157-019-01732-7

    DOI

    http://dx.doi.org/10.1007/s10157-019-01732-7

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1113301048

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/30963316


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        "description": "BackgroundNeonatal-onset Denys\u2013Drash 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.MethodsWe 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\u00a0days) were eligible.ResultsWe 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\u00a0mg/dL) than that in the CNF group (0.15\u00a0mg/dL; P\u2009=\u20090.002). The median placental/fetal weight ratio in the NODDS and CNF group was 41.8% and 21.0%, respectively (P\u2009=\u20090.001). Kaplan\u2013Meier analysis showed that the median number of days for progression to ESRD from onset in the NODDS and CNF groups was 6 and 910\u00a0days, respectively (P\u2009<\u20090.001). 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.ConclusionCNS, 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.", 
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    34 schema:description BackgroundNeonatal-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.MethodsWe 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.ResultsWe 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.ConclusionCNS, 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.
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