Download as PDF, PPTX
More Related Content
kidney and the eye
- 1. Ocular Manifestations of PediatricRenal Diseases Nasser Shoeibi, M.Sc.; M.D. Eye Research Center MUMS
- 2. • 14 Y/Olady • CC: decreased vision in both eyes especially OS since 2 weeks ago • POH: Neg • PMH: Anemia (mild)
- 3.
- 4. Again I askedquestions about the systemic condition • No specific medication • No drug • No skin or joint disorder • No cardiac, pulmonary or ENT/CNS/renal symptom • No Hx of febrile disease
- 5.
- 6. • Blood pressurewas checked in the clinic: 190/110 mmHg
- 7. WHY THE KIDNEYAND RETINA SHARE INVOLVEMENT IN INHERITED/IMMUNOLOGIC DISEASES
- 8. The Kidney andEye Share Developmental Pathways • PAX and WT1 pathways • PAX genes encode nuclear transcription factors that control development of the kidney, eye, ear, brain, vertebral column and limb muscles • The WT1 gene is necessary for ureteric bud formation and retinal ganglion cell differentiation • Renal-coloboma syndrome with vesicoureteric reflux • WT1 mutations produce Wilm's tumor (WAGR)
- 9. The Retinochoroidal JunctionResembles the Glomerular Filtration Barrier Basement membrane Capillaries Ciliated cells
- 10. Ciliated Cells • Ciliatransmit mechanosensory, visual, and osmotic stimuli • Podocytes and RPE cells depend on their primary cilia for specialized cell functions • Nephronophthisis • Bardet-Biedl syndrome • other clinical features • Hearing loss • Abnormal limb and digit development • Developmental delay • Liver and respiratory disease • Infertility
- 11. Oculorenal disorders • Malformation/hypoplasia •Ciliopathies • Common structural defects • Metabolic • Phakomatosis • Vascular
- 12. Oculorenal disorders Malformation/hypoplasia • Renal-colobomasyndrome • Wilms tumor-aniridia (WAGR contiguous deletion syndrome) • CHARGE syndrome • Alagille syndrome • Branchio-oto-renal syndrome (BOR) • Fraser syndrome
- 14. Oculorenal disorders Ciliopathies • Nephronophthisis(NPHP) syndromes • Senior-Løken syndrome • Bardet-Biedl syndrome • Joubert syndrome • Mainzer-Saldino syndrome
- 15.
- 16. Oculorenal disorders Common structuraldefects • Alport syndrome • Nail-patella syndrome • Pierson syndrome • Williams-Beuren syndrome • Marfan syndrome • Alagille syndrome • IFAP ± BRESHAK syndrome • Zellweger syndrome
- 17. 1394: 14 Y/Omale referred for eye exam before initiation of corticosteroid for nephrotic syndrome • BCVA: 4/10 OU
- 19.
- 20.
- 22. Oculorenal disorders Metabolic • Lowesyndrome • Oxalosis • Cystinosis • Lecithin cholesterol acyltransferase (LCAT) deficiency/Norum syndrome • Osteopetrosis with tubular dysfunction • Galactosemia • α-galactosidase A deficiency/Fabry disease • Familial hypercalciuric hypomagnesemia with nephrocalcinosis (FHHNC)
- 23.
- 24. Oculorenal disorders Phakomatosis • vonHippel-Lindau disease • Tuberous sclerosis complex
- 25.
- 26. Oculorenal disorders Vascular • Diabetesmellitus • Hypertension
- 27. Oculorenal disorders Inflammatory • Tubulointerstitialnephritis and uveitis syndrome (TINU) • Sjögren syndrome • Granulomatosis with polyangiitis (formerly Wegener’s granulomatosis) • Systemic lupus erythematosus
- 28. Tubulointerstitial nephritis and uveitissyndrome (TINU) • 15 year old girl • Photophobia , decreased vision and eye pain • Proteinuria
- 29. Corticosteroid therapy Direct ophthalmiccomplications • Cataract formation • Ocular hypertension and glaucoma • Delayed corneal epithelial healing • Reactivation of latent herpetic/fungal infection
- 30. The effects ofESRD Ocular calcifications • Usually asymptomatic • Typically seen in dialysis patients (takes time to develop) • Rare and severe : Band keratopathy
- 31. The effects ofESRD Cataracts • up to 50 % • punctate stippling of the lens cortex (hypocalcemia)
- 32. The effects ofESRD Exudative or serous retinal detachment • Hyponatremia, osmotic disequilibrium, and hypertension→ Obstruction at the choriocapillaris → Leakage of fluid into the subretinal space
- 33. Renal dialysis • Themarked fluid shifts and accompanying hypotension • Potential complications • Central retinal vein occlusion • Cortical blindness • Anterior ischemic optic neuropathy • Optic neuropathy: due impairments in optic nerve from handling blood pressure fluctuations as seen in dialysis and renal hypertension.
- 34. Renal dialysis • Intraocularpressure (IOP) and intracranial pressure (ICP) tend to rise with dialysis with IOP even increasing by 13.5 mmHg during hemodialysis
- 35. Renal dialysis IOP/ICP rise •Management • Less rapid urea removal • Lower dialysis clearance rates • Increased frequency of dialysis
- 36. Ocular complications • Cataract •Swollen disk and hypertensive retinopathy • Increased intra-ocular pressure Pediatric transplant •. 2010 Feb;14(1):77-81. Kidney transplantation
- 37. Thanks for yourattention