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Adult familial nephronophthisis-spastic quadriparesia syndrome

MONDO:0017044

This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients.

11 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Kidney disorder (202) Hereditary disease (172) Urinary system disorder (62) Human disease (14) Cystic kidney disease (8) Disease of genetic or genomic mechanism (2) Disease by body system or component (0) Disease by etiologic mechanism (0) Familial cystic renal disease (0)
Trials to join now! 5 Not yet recruiting 2 Not yet finished but already full! 3 Completed 1
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  • Sweat sensor could replace needles for kidney patients

    Diagnosis Completed

    This study tested a new wearable patch that collects sweat to measure sodium and creatinine levels, which are important for monitoring kidney health and dehydration. Five adults with kidney disease wore the patch while their sweat was analyzed using a special light-based techniqu…

    Phase: NA • Sponsor: Korea University • Aim: Diagnosis

    Last updated Jun 27, 2026 08:11 UTC

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