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Abstract: SA-PO426

Think, Rethink, Diagnose: Dent Disease Type 1

Session Information

Category: Genetic Diseases of the Kidneys

  • 1002 Genetic Diseases of the Kidneys: Non-Cystic

Authors

  • Burballa, Carla, Vall d'Hebron Institut de Recerca, Barcelona, Spain
  • Duran, Monica, Vall d'Hebron Institut de Recerca, Barcelona, Spain
  • Sarró, Eduard, Vall d'Hebron Institut de Recerca, Barcelona, Spain
  • Vall, Monica, Vall d'Hebron Institut de Recerca, Barcelona, Spain
  • Ariceta, Gema, Hospital Universitari Vall d'Hebron, Barcelona, Spain
  • Meseguer, Anna, Vall d'Hebron Institut de Recerca, Barcelona, Spain

Group or Team Name

  • Renal Physiopathology Group. VHIR
Background

Dent’s disease type 1(Dent1) is a rare X-linked tubulopathy with no cure at the present time. It affects mainly males and is characterized by low-molecular-weight proteinuria(LMWP), hypercalciuria, nephrolithiasis, nephrocalcinosis and progressive renal failure. There’s a broad phenotypic variability unrelated to the different mutations. LMWP is not routinely tested so that it may go unnoticed and lead to misdiagnosis.
The prevalence of Dent1 is unknown. The geographic dispersion and the lack of common registries make epidemiologic studies difficult.
We aim to evaluate the Spanish Dent1 cohort and assess its genetic and clinical characterization.

Methods

We identified 18 patients with genetic confirmation of Dent1 diagnosed in 9 different hospitals in Spain. Only two individuals belonged to the same family; the rest to different families.

Results

Genetic analysis revealed 17 different mutations in CLCN5 gene in the 18 patients. The median age at diagnosis was 15 months [IQR,11-108] and the main sign leading to diagnosis was proteinuria (40%). All patients had proteinuria measured by protein/creatinine ratio(pCOR), median 1600mg/g [IQR.715-1665]) and LMWP. During follow-up, 40% of patients presented with nephrocalcinosis and 11% with lithiasis. Mean creatinine at diagnosis was 0,37±0,18mg/dl and estimated glomerular filtration rate(eGFR) 140±59 ml/min. After follow-up, (median 6 years [IQR,3-12.25]) creatinine was 1,2±0,9 mg/dl and eGFR 88±44 ml/min. No patients required renal replacement therapy (Table 1).

Conclusion

One should suspect Dent1 in males with a history of lithiasis, nephrocalcinosis or bone disease. Although LMWP is the hallmark of Dent1, many patients show albuminuria. LMWP should be tested in young males with albuminuria and no other sign/symptom of nephrotic syndrome. Common registries are important.

Funding

  • Private Foundation Support