Status:

UNKNOWN

Study of The Association of Mutations in The NPHS2 Gene and Nephrotic Syndrome in Children and Adults in Middle East

Lead Sponsor:

AHMED ABDULQADER HAMMOUDA ABOU SHALL

Collaborating Sponsors:

Kuwait University

Assiut University

Conditions:

Nephrotic Syndrome

Eligibility:

All Genders

2-50 years

Brief Summary

Nephrotic syndrome (NS) represents one of the most common diagnoses in pediatric and adult nephrology, with a prevalence of 16 per 100,000 children and 3 per 100,000 adults in Western countries. In m...

Detailed Description

Aim of the work: The aim of this study is: 1. To identify any relationship between NPHS2 gene mutations and NS in children and adults in Middle East. 2. To study the relationship of mutations in thi...

Eligibility Criteria

Inclusion

  • Inclusions criteria in children:
  • All children who presented with acute onset of heavy proteinuria (\>3 g/24hrs).
  • If a biopsy was performed then only a diagnosis of MCD or FSGS will be included after performing light microscopy, immunofluorescence or immunoperoxidase testing and electron microscopy. These studies will be reviewed by the primary investigator.
  • If a biopsy is not performed as is the case with many children, then the clinical and serological parameters should be consistent with MCD or FSGS as evidenced by the negativity of autoimmune and infectious markers.. The cut off age used in referring patients to adult nephrologists is 16 years.
  • Inclusions criteria in adults :
  • All patients with proteinuria of acute or gradual onset but has to be more than 1g/24hrs. A biopsy must have been performed and reviewed by the primary investigator and the results should be MCD/FSGS after applying all the aforementioned pathological studies.

Exclusion

  • 1\) All patients diagnosed as MCD secondary to:-
  • Drugs:NSAIDs (most common), antimicrobials, lithium, bisphosphonates, and penicillamine (many others).
  • Cancer:haematological malignancies (most common), solid organ malignancies (rarely associated with MCD).
  • Infections:(rarely):esp.TB,syphilis,HIV, HCV, mycoplasma.
  • Atopy:30% of MCD patients.
  • Immunizations.
  • 2\) All patients diagnosed as FSGS secondary to:-
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  • Infection (podocyte invasion): HIV-associated nephropathy (HIVAN) , Parvovirus B19.
  • Drugs (podocyte toxicity): Pmidronate, lithium, interferon, and heroin.
  • Congenital or acquired nephron mass reduction: Renal dyplasia, reflux nephropathy, renovascular disease, partial or unilateral nephrectomy.
  • Hyperfiltration as part of disease process: Morbid obesity, diabetic nephropathy, pre-eclampsia, sickle cell disease.
  • Any cause of glomerular disease with progressive scarring: Eg. Membranous GN, IgAN, Alport syndrome, thrombotic microangiopathy, vasculitis.

Key Trial Info

Start Date :

October 1 2016

Trial Type :

OBSERVATIONAL

Allocation :

ESTIMATED

End Date :

June 1 2020

Estimated Enrollment :

150 Patients enrolled

Trial Details

Trial ID

NCT03326037

Start Date

October 1 2016

End Date

June 1 2020

Last Update

January 10 2019

Active Locations (1)

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Faculty of Medicine-Pathology Department

Hawalli, Kuwait, 24923Safat13110