2) This program is supported by an educational grant from Otsuka Pharmaceuticals & is intended for #HCPs. #Physicians #Physicianassociates #nurses #nursepractioners #pharmacists 🇺🇸🇨🇦🇪🇺🇬🇧 earn CE/#CME credit. Statement of accreditation & faculty disclosures https://t.co/R8QNlBHAgo
— @CKD_ce (@ckd_ce) February 21, 2023
3b) In this setting, the main concern is accurate differential diagnosis between “simple” cysts without clinical significance and cysts associated with genetic polycystic disorders with renal and/or extrarenal consequences.
— @CKD_ce (@ckd_ce) February 21, 2023
See 🔓 https://t.co/qNwz8DELu0 pic.twitter.com/Tvv9TFyHx0
4b) Intraductal papillary mucinous neoplasm of the pancreas was diagnosed and multiple small cysts were fortuitously observed in the cortex and the medulla of both #kidneys. The digestive surgeon calls you for advice… pic.twitter.com/jabddRKX5o
— @CKD_ce (@ckd_ce) February 21, 2023
6) Multiple disorders can lead to the occurrence of #kidney #cysts, with very different prognostic and therapeutic implications, so the correct answer is D. The following questions are key for differential diagnosis: pic.twitter.com/0rBdD4GACV
— @CKD_ce (@ckd_ce) February 21, 2023
8) Given the presence of multiple bilateral #cysts and characteristic #electrolyte disturbances, #genetic testing was performed. As you may have suspected this patient had a heterozygous deletion of #HNF1beta.
— @CKD_ce (@ckd_ce) February 21, 2023
See https://t.co/DD9kN5p6MQ.
10) The clinical #phenotype associated with #HNF1B haploinsufficiency is variable, and extrarenal features, including #MODY diabetes and urogenital tract malformations, are frequently helpful to guide the diagnosis.
— @CKD_ce (@ckd_ce) February 21, 2023
See https://t.co/kF20PraKQK pic.twitter.com/BI7rvDpe7h
12) #ADTKD share common pathophysiological mechanisms, mainly dependent on endoplasmic reticulum stress within tubular epithelial cells https://t.co/kF20PraKQK pic.twitter.com/mopFeu197n
— @CKD_ce (@ckd_ce) February 21, 2023
14) While the previous diagnoses are commonly missed since they are rather seldom in general practice, autosomal dominant polycystic kidney disease (#ADPKD) is a frequent hereditary cause of #kidneydisease, present in 1/1000 to 1/2500 individuals. pic.twitter.com/qXes5HaqiI
— @CKD_ce (@ckd_ce) February 21, 2023
16) ADPKD predominantly affects the kidneys, with the progressive onset and growth of numerous cysts.
— @CKD_ce (@ckd_ce) February 21, 2023
🔓 https://t.co/TrTYvpxm08 pic.twitter.com/4emq4UwYRW
18) In approximately 80% of cases the genetic variations responsible for #ADPKD are located in #PKD1, encoding #polycystin 1. The molecular diagnosis of ADPKD is complicated by the presence of highly homologous sequences of PKD1.
— @CKD_ce (@ckd_ce) February 21, 2023
See https://t.co/NpVrN7vL5v pic.twitter.com/u67hyFTiSX
20) As shown in this large study from the #Genkyst cohort the types of mutations found in #PKD1 and #PKD2 are variable.
— @CKD_ce (@ckd_ce) February 21, 2023
See https://t.co/l3fnfBdVgE pic.twitter.com/FYzg1UsI8B
22) The severity of renal phenotype in #ADPKD is highly dependent on the gene involved, the type of genetic variation, & the potential association with additional variants, which all contribute to the level of expression of functional #polycystins.
— @CKD_ce (@ckd_ce) February 21, 2023
See 🔓 https://t.co/GLF4zxpVfY pic.twitter.com/uGszBlFKsf
24a) Genetic analysis is indicated in severe renal phenotypes occurring in utero or in early childhood. It can reveal:
— @CKD_ce (@ckd_ce) February 21, 2023
👉compound #heterozygosity (2 different mutations in #PKD1)
(cont)
25) Absence of a ➕family history occurs in 10%-25% of pts w/#ADPKD.
— @CKD_ce (@ckd_ce) February 21, 2023
Beyond potentially missing parental records, genetic analyses are useful here as ADPKD may be related to a de novo mutation, a germline or a somatic #mosaicism, or to combined hypomorphic PKD1 & PKD2 mutations. pic.twitter.com/4dGdQND1Hi
27a) The genetic #mosaicism corresponds to the coexistence of several cellular genetic lineage in the same individual, because of the occurrence of a post zygotic mutation. A mutation may therefore be present in the kidney tissue but not identified . . .
— @CKD_ce (@ckd_ce) February 21, 2023
28) In summary, in which patients with suspected or confirmed #ADPKD should genetic analyses be prioritized?
— @CKD_ce (@ckd_ce) February 21, 2023
See 🔓 https://t.co/7FYFCYuEiv. pic.twitter.com/T2GjYvHjbv
30) WELCOME BACK! I am @dguerrot from @CHURouen 🇫🇷 , we are talking about the utility of #genetic analysis in #ADPKD, and YOU are earning 🆓CE/#CME! Follow @ckd_ce for expert-authored #accredited #tweetorials in the #nephrology space!#FOAMed #NephTwitter @MedTweetorials
— @CKD_ce (@ckd_ce) February 22, 2023
32) This important study from the #Genkyst cohort demonstrated that #PKD1 (vs PKD2) and the type of PKD1 mutation have a strong influence on renal survival. Patients with PKD1 truncating mutations reach #ESKD at a mean age of 55 years old.
— @CKD_ce (@ckd_ce) February 22, 2023
🔓 https://t.co/NJeuZYMJz6 pic.twitter.com/qUXk0nOyXC
34) There is a significant genotypic and phenotypic overlap between #ADPKD and autosomal dominant polycystic liver disease (#ADPLD).
— @CKD_ce (@ckd_ce) February 22, 2023
See 🔓 https://t.co/lJ0xN9fF6B pic.twitter.com/JJqaCwXGJr
35b) Cystogenesis in #GANAB-related disease is probably related to a defect in PC1 maturation, because GIIα is essential for the maturation and surface and ciliary localization of #PC1. pic.twitter.com/SemqRLt9Eo
— @CKD_ce (@ckd_ce) February 22, 2023
37a) Renal disease is the second leading cause of early death (27.5%) in individuals with #TSC. Five different kidney lesions occur in TSC:
— @CKD_ce (@ckd_ce) February 22, 2023
1⃣ benign #angiomyolipoma (70% of affected individuals)
2⃣ epithelial cysts (20%-30%)
(cont)
38) The skin is affected in virtually 100% of individuals with #TSC. Skin lesions can be recognized and guide the etiological approach.
— @CKD_ce (@ckd_ce) February 22, 2023
See https://t.co/RDuLVMG27R pic.twitter.com/9nTThkfFxC
40a) The correct answer is #OFD1, a X-linked dominant #ciliopathy where kidney cysts occur in ~40% of cases. See 🔓 https://t.co/9AbRwrIxcA. This is a malformative syndrome is almost constant in OFD1 with characteristic oral anomalies:
— @CKD_ce (@ckd_ce) February 22, 2023
41) Parapelvic cysts should be recognized as they can ➡️erroneous dx of #hydronephrosis.
— @CKD_ce (@ckd_ce) February 22, 2023
They generally do not require intervention, & this name may be misleading, as parapelvic cysts do not belong to kidney parenchymal cystic diseases.
See 🔓 https://t.co/zT2NqQbmsn pic.twitter.com/PjcGGwFaX1
43) Did you identify renal #lymphangiectasia ? Well done ! Don’t miss this specific finding of benign perirenal cystic appearance.
— @CKD_ce (@ckd_ce) February 22, 2023
See https://t.co/qdYTLSxEBy.
45) And you have just earned 0.5h 🆓CE/#CME from @academiccme ! I am @dguerrot and you should go to https://t.co/qTKNfi0FBy to claim your certificate!
— @CKD_ce (@ckd_ce) February 22, 2023
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