2) Our guest faculty is M Abdul Qader🇧🇩@md_abdulqader83, Pediatric #Nephrologist @squarehospital and Clinical Fellow #NUH, #Singapore.
— @CKD_ce (@ckd_ce) January 30, 2024
This program is part of a foundational 🫘 #MedEd#accredited series hosted by core @ckd_ce faculty @sophia_kidney. pic.twitter.com/gf3miDADxZ
4a) So, as I am SURE you all know, #CAKUT is congenital abnormality of the #kidney and urinary tract, encompassing a spectrum of structural abnormalities present at birth.
— @CKD_ce (@ckd_ce) January 30, 2024
Among the potential causes, what percentage do you think are attributable to #genetic variants?
5) Methods:
— @CKD_ce (@ckd_ce) January 30, 2024
Patients from the China Neonatal Genomes Project
Newborns diagnosed between Jan 2016 and June 2021 with #CAKUT were recruited
Infants ≤ 28 days at admission with CAKUT
Excluded if incomplete information
7) Diagnosis of #CAKUT
— @CKD_ce (@ckd_ce) January 30, 2024
Generally will require imaging of kidneys and urinary tract by
– #Ultrasonography
– Nuclear scintigraphy
9) Demographics
— @CKD_ce (@ckd_ce) January 30, 2024
– 330 newborns
– 228 were male
– Average birth weight 2984+/- 781g
– Average gestational age: 37 (+/-3) weeks
– 8 patients had family history of renal anomalies
11) Extrarenal manifestation in 118 babies
— @CKD_ce (@ckd_ce) January 30, 2024
– 🫀 Cardiovascular system (54)
– 💪 Musculoskeletal system (33)
– 🫤 Special face feature (31)
– ❌Reproductive system (15)
– 🧠Neurologic system (12) pic.twitter.com/sYZ5VhxGxF
13) Monogenic disease
— @CKD_ce (@ckd_ce) January 30, 2024
45 pathogenic or like pathogenic SNVs in 30 genes (35 patients)
Inheritance (30 genes)
AD (13)
AR (10)
AD/ AR (4)
XLD (1)
XLD/ XLR (2)
=> 15 of 30 were #syndromic
=>KMT2D, Kabuki syndrome (5 patients) [#PKD, MCDK, ectopic kidney, and horseshoe kidney] pic.twitter.com/M2caDloPay
15) Limitations of the study
— @CKD_ce (@ckd_ce) January 30, 2024
This study did not present the secondary findings (plan to publish in future)
Lack of complete maternal examination information and genetic findings
17a) One last knowledge check! Which organ system represents the most common extrarenal manifestations of #CAKUT?
— @CKD_ce (@ckd_ce) January 30, 2024
18) And you just earned 0.5hr🆓CE/CME! Claim your certificate now at https://t.co/POjEu4B01K and share this #tweetorial with your followers & friends! Thanks to @md_abdulqader83 for authoring & @sophia_kidney for managing!#FOAMed #nephtwitter @ISNkidneycare @KIReports @goKDIGO
— @CKD_ce (@ckd_ce) January 30, 2024