Clinical characteristics and genetic profile of children with WDR72-associated distal renal tubular acidosis: a nationwide experience.
Bobbity DeepthiSudarsan KrishnasamyShivakumar KrishnamurthyPriyanka KhandelwalAditi SinhaPankaj HariRohitha JaikumarPrajal AgrawalAbhijeet SahaR V DeepthiIndira AgarwalRajiv SinhaMahesh VenkatachariMehul A ShahGirish Chandra BhattBalasubramanian KrishnanAnil VasudevanArvind BaggaSriram KrishnamurthyPublished in: Pediatric nephrology (Berlin, Germany) (2024)
WDR72-dRTA should be considered in children with typical features of amelogenesis imperfecta and dRTA. Biallelic nonsense variants are common in Asians. While most patients respond well to treatment with improved growth and preserved eGFR, on long-term follow-up, a decline in eGFR may occur.
Keyphrases
- small cell lung cancer
- end stage renal disease
- young adults
- epidermal growth factor receptor
- tyrosine kinase
- ejection fraction
- chronic kidney disease
- prognostic factors
- peritoneal dialysis
- gene expression
- cross sectional
- autism spectrum disorder
- endothelial cells
- combination therapy
- smoking cessation
- high glucose
- replacement therapy
- patient reported