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Coexistence of autosomal dominant polycystic kidney disease type 1 and hereditary renal hypouricemia type 2: A model of early-onset and fast cyst progression.
- Source :
-
Clinical genetics [Clin Genet] 2020 Jun; Vol. 97 (6), pp. 857-868. Date of Electronic Publication: 2020 Mar 25. - Publication Year :
- 2020
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Abstract
- Autosomal dominant polycystic kidney disease (ADPKD) is a heterogeneous inherited disease characterized by renal and extrarenal manifestations with progressive fluid-filled cyst development leading to end-stage renal disease. The rate of disease progression in ADPKD exhibits high inter- and intrafamilial variability suggesting involvement of modifier genes and/or environmental factors. Renal hypouricemia (RHUC) is an inherited disorder characterized by impaired tubular uric acid transport with severe complications, such as acute kidney injury and chronic kidney disease (CKD). However, the two disorders have distinct and well-delineated genetic, biochemical, and clinical findings. Only a few cases of coexistence of ADPKD and RHUC (type 1) in a single individual have been reported. We report a family with two members: an ADPKD 24-year-old female which presented bilateral renal cysts in utero and hypouricemia since age 5, and her mother with isolated hypouricemia. Next-generation sequencing identified two mutations in two genes PKD1 and SLC2A9 in this patient and one isolated SLC2A9 mutation in her mother, showing RHUC type 2, associated to CKD. The coexistence of these two disorders provides evidence of SLC2A9 variant could act as a modifier change, with synergistic actions, that could promote cystogenesis and rapid ADPKD progression. This is the first case of coexistence of PKD1 and SLC2A9 mutations treated with tolvaptan.<br /> (© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
- Subjects :
- Acute Kidney Injury complications
Acute Kidney Injury diagnosis
Acute Kidney Injury genetics
Acute Kidney Injury pathology
Adult
Child, Preschool
Female
Humans
Mutation genetics
Polycystic Kidney Diseases complications
Polycystic Kidney Diseases diagnosis
Polycystic Kidney Diseases pathology
Polycystic Kidney, Autosomal Dominant complications
Polycystic Kidney, Autosomal Dominant diagnosis
Polycystic Kidney, Autosomal Dominant genetics
Polycystic Kidney, Autosomal Dominant pathology
Renal Insufficiency, Chronic complications
Renal Insufficiency, Chronic diagnosis
Renal Insufficiency, Chronic genetics
Renal Insufficiency, Chronic pathology
Renal Tubular Transport, Inborn Errors complications
Renal Tubular Transport, Inborn Errors diagnosis
Renal Tubular Transport, Inborn Errors pathology
Young Adult
Glucose Transport Proteins, Facilitative genetics
Polycystic Kidney Diseases genetics
Renal Tubular Transport, Inborn Errors genetics
TRPP Cation Channels genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1399-0004
- Volume :
- 97
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- Clinical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 32166738
- Full Text :
- https://doi.org/10.1111/cge.13738