Cystic kidney diseases that require a differential diagnosis from autosomal dominant polycystic kidney disease (ADPKD)

A Sekine, S Hidaka, T Moriyama, Y Shikida… - Journal of clinical …, 2022 - mdpi.com
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary
cystic kidney disease, with patients often having a positive family history that is characterized …

Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease

H Mabillard, JA Sayer, E Olinger - Nephrology Dialysis …, 2023 - academic.oup.com
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a clinical entity defined by
interstitial fibrosis with tubular damage, bland urinalysis and progressive kidney disease …

Dnajb11-kidney disease develops from reduced polycystin-1 dosage but not unfolded protein response in mice

SG Roy, Z Li, Z Guo, KT Long, S Rehrl… - Journal of the …, 2023 - journals.lww.com
Background Patients with heterozygous inactivating mutations in DNAJB11 manifest with
cystic but not enlarged kidneys and renal failure in adulthood. Pathogenesis is proposed to …

Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin

M Sicking, M Živná, P Bhadra… - Life Science …, 2022 - life-science-alliance.org
The human Sec61 complex is a widely distributed and abundant molecular machine. It
resides in the membrane of the endoplasmic reticulum to channel two types of cargo: protein …

Evaluation of genetic kidney diseases in living donor kidney transplantation: towards precision genomic medicine in donor risk assessment

Y Caliskan, B Lee, AM Whelan, F Abualrub… - Current transplantation …, 2022 - Springer
Abstract Purpose of Review To provide a comprehensive update on the role of genetic
testing for the evaluation of kidney transplant recipient and living donor candidates. Recent …

Autosomal dominant tubulointerstitial kidney disease: A review

M Živná, KO Kidd, V Barešová… - American Journal of …, 2022 - Wiley Online Library
The clinical characteristics of autosomal dominant tubulointerstitial kidney disease (ADTKD)
include bland urinary sediment, slowly progressive chronic kidney disease (CKD) with many …

Autosomal dominant tubulointerstitial kidney disease: more than just HNF1β

AJ Bleyer, MT Wolf, KO Kidd, M Zivna, S Kmoch - Pediatric Nephrology, 2022 - Springer
Autosomal dominant tubulointerstitial kidney disease (ADTKD) refers to a group of disorders
with a bland urinary sediment, slowly progressive chronic kidney disease (CKD), and …

[HTML][HTML] Autosomal dominant tubulointerstitial kidney disease: an emerging cause of genetic CKD

L Econimo, C Schaeffer, L Zeni, R Cortinovis… - Kidney International …, 2022 - Elsevier
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare inherited disorder
characterized by progressive loss of kidney function, nonsignificant urinalysis and …

Genetic Susceptibility to Chronic Kidney Disease: Links, Risks and Management

H Sawaf, TT Gudura, S Dorobisz, D Sandy… - … of Nephrology and …, 2023 - Taylor & Francis
Chronic kidney disease (CKD) is associated with significant morbidity and mortality
worldwide. In recent years, our understanding of genetic causes of CKD has expanded …

Leader peptide or pro-segment mutants of renin are misrouted to mitochondria in autosomal dominant tubulointerstitial kidney disease

C Schaeffer, M De Fusco… - Disease models & …, 2023 - journals.biologists.com
Autosomal dominant tubulointerstitial kidney disease (ADTKD), a rare genetic disorder
characterised by progressive chronic kidney disease, is caused by mutations in different …