RT @drM_sudha: What is Dent’s disease? a heterogeneous group of X-linked recessive (XLR) disorders 📌Dent 1 📌XLR nephrolithiasis (XRN) 📌XLR…
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1,963 followers
Let’s talk about OCRL1- ⚡️OCRL1 helps lysosomes in renal PT cells & trans-Golgi network in fibroblasts with endosomal/lysosomal trafficking by 📌inactivating PIP2 📌Interaction with clathrin 📌interaction with Rab5 effector APPL1 https://t.co/o9zpykumvx
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Let’s talk about Dent disease 1 and 2 ⚡️Prevalence is unknown ⚡️So far we know of ~250 families (Dent-1) & ~50 patients (Dent-2) disease https://t.co/o9zpykumvx https://t.co/VEHPPlm5l1
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What is Dent’s disease? a heterogeneous group of X-linked recessive (XLR) disorders 📌Dent 1 📌XLR nephrolithiasis (XRN) 📌XLR hypercalciuric hypophosphatemic rickets (XLRH) 📌LMW proteinuria with hypercalciuria and nephrocalcinosis 📌Dent 2 https://t.co/LI0oTS