A recent letter in Nature revealed some interesting findings about Pseudohypoaldosteronism type II (PHAII), a rare syndrome featuring hypertension, hyperkalaemia and metabolic acidosis. The authors used exome sequencing to identify recessive or dominant mutations in kelch-like 3 (KLHL3) or dominant mutations in cullin 3 (CUL3) in PHAII patients from 41 unrelated families. KLH3 and CUL3 are expressed in the distal nephron perhaps why this allows for the features we see in this syndrome. When given thiazides, the disease features were reversed.
This letter showed that a novel way of exome sequencing could diagnosis new mutations that lead to hypertension.
Check out the full letter at:
- ► 2020 (32)
- ► 2019 (42)
- ► 2018 (57)
- ► 2017 (52)
- ► 2016 (45)
- ► 2015 (63)
- ► 2014 (95)
- ► 2013 (133)
- Nephrology Crosswords: Dyskalemias
- In the News: Telomeres and HIVAN
- History of Erythropoietin development
- ASN 2012
- Bundling and the DOPPS data
- IN THE NEWS: Stem cells and transplantation
- MPGN revisited
- iSediment Feature
- IN THE NEWS: Hypertension and Kelch like 3 and cul...
- Acetaminophen and hypertension?
- CLINICAL CASE 53: Answers and Summary
- Topic Discussion: IgM Nephropathy
- Detective Nephron strikes again
- Topic Discussion: Renin production
- eAJKD: Nephrology revival
- World Kidney Day 2012
- ASN new podcast for Kidney day 2012
- IN THE NEWS: FSP-1
- Kidney Education- in many Indian Languages( gift f...
- Hypernatremia and Acute Myeloid Leukemia
- ASN POLICY PRIORITIES 2012
- ▼ March (21)
- ► 2011 (370)
- ► 2010 (461)