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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.

1 clinical trial for this condition and its sub-types.

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Broader categories

Disease (680) Kidney disorder (214) Hereditary disease (176) Urinary system disorder (66) Human disease (14) Cystic kidney disease (8) Disease of genetic or genomic mechanism (2) Inherited kidney disorder (1) Disease by body system or component (0) Disease by etiologic mechanism (0)
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  • Could a diabetes drug protect kidneys in children with genetic disease?

    Disease control Recruiting now

    This study tests whether adding dapagliflozin (a diabetes drug) to standard care reduces protein leakage in the urine of children with hereditary kidney diseases. About 44 children will receive either dapagliflozin plus standard care or standard care alone for 12 weeks, then swit…

    Phase: PHASE3 • Sponsor: Children's Hospital of Fudan University • Aim: Disease control

    Last updated Jul 08, 2026 00:00 UTC

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