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Developmental abnormalities and inflammations of the kidney and urinary tract Cystic diseases Cystic renal dysplasia Polycystic kidney - Adult (AD) - Infantile (AR) Medullary cystic Dialysis associated cystic Simplex cysts Renal cystic disease associated with inherited diseases Glomerulocystic diseases Extraparenchymal renal cysts Polycystic kidney (ADPKD) Frequency: 1: 400-1000 CRF 5-10% AD PKD1 : 16p13.3 (85%) RF: 40 y.: 5%, 50 y: 35%, 60 y.: 70%, 70y: 95% polycystin-1 PKD2 : 4q21 (15%) RF: 0, 5, 15, 45 polycystin-2 Scenario of the development of the ADPKD Mutation Cell-cell, cell-matrix relation abnormality Altered epithelial proliferation, and. differentiation Abnorm. ECM Epith. proliferation Fluid secretion Vascular injury CYST Interstitial inflammation fibrosis Polycystic kidney clinical signs Pain Haematuria Progressive renal insufficiency Proteinuria (not more than 2 g / day) Polyuria Hypertension Polycystic kidney other accompaniing congenital anomalies Hepatic cysts Berry anerysms Mitral prolapse other valvular anomalities Th.: Dialysis, renal transplatation cause: 40 % : coronary / hypertensive heart disease 25 % : infection 15 % : aneurysm rupture, hypertensive intracerebral haemorrhage 20% : other causes Renal dysplasia (Cystic renal dysplasia) Nomenclature ! Sporadic Unilateral, ( might be bi) Metanephric differentiation abnormality Combined with lower urinary tract anomalies ( Vesicoureteral junction obstruction, ureter agenesia) Clin.: Palpable abdominal mass Clinical manifestation of renal disorders Acute nephritis: macroscopic haematuria, mild proteinuria, mild hypertension Nephrosis: severe proteinuria 3.5g/day hypoalbuminaemia, oedema, hyperlipidemia, lipiduria Acute renal insufficiency: abrupt oligo/anuria Chronic renal insuff/failure: Clinical manifestation of renal disorders Renal tubular defects: polyuria, electrolit disorders (Metabolic acidosis) Urine infections : pain, fever, etc Nephrolithiasis: colica, haematuria Obstruction: pain, infection, stone formation Clinical manifestations of renal disorders Chronic renal insuff: Decreased renal reserve: GFR =50 % Se creatinin, BUN norm. Free of symptoms Renal insufficiency: GFR 20-50 % Se creatinin, BUN anaemia, hypertension, sign: polyuria, Renal failure: GFR: 20-25%, oedema, hypocalcaemia, acidosis, neurological, GI, cardiovascular sequales End-stage: GFR: 5% General signs of renal insufficiency Fluid /electrolite Dehydration Oedema Hyperkalaemia Metabolic acidosis Calcium, phosphate Hyperphosphataemy Hypocalcaemy Secunder hypoparathyreosis Renal osteodystrophy Haematological Anaemia Diathesis General signs of renal insufficiency General signs of renal insufficiency Cardiovascular Hypertenison Congestive cardiac insuff Pulmonary oedema Serous membranes Uremic pericarditis, pleuritis, peritonitis General signs of renal insufficiency GI Vomit Hemorrhage Oesophagitis, gastritis, colitis Neuromuscular Myopathy, Neuropathy, Encephalopathy Dermatological Yellow skin, itching, dermatitis Causes of Tubulointerstitial Nephritis Infection Acut bacterial pyelonephritis Chronic pyelonephritis (reflux nephropathy) Other infections ( viral, parasitic) Toxins Drugs Acute hypersensitive nephritis Analgesic nephropathy Heavy metals Lead, Cadmium Metabolic diseases Urate nephropathy Hypercalcaemic nephropathy Hypokalaemic nephropathy Oxalate nephropathy Tubulointerstitial nephritis Physical factors Chronic obstruction Radiation nephropathy Neoplasms Myeloma multiplex Immunological diseases Transplant rejection Sjgren sy Sarcoidosis Vascular disorders Other Balkan nephropathy Nephronophthisis medullary cystic disease Idiopathic” interstitial nephritis Pyelonephritis Infection Ascending E. Coli Klebsiella Proteus Enterobacter Streptococcus faecalis Haematogenous Staphylococcus E.Coli Renal stones Calcium oxalat, phosphat 70% MG, ammonium phosphat 15-20% struvit Urate 5-10 % Cystin 1-2 % Factors leaidng to stone formation: High ionic - concentration Low ph, Decreased renal flow, Bacteria Deficiency in inhibitors of crystal formation: Pyrophosphate Diphosphonate GAG Osteopontin Nephrocalcin Diseases of the urinary bladder Symptoms of diseases of the urinary bladder Pain, dysuria Urinary frequency Haematuria Cystoscopy: red spots on the mucosa, protruding flat or papillary tumor, rigid bladder wall Diagnostic possibilities Laboratory tests + cytology Culture graphy Cystoscopy TUR Benign Papilloma Inverted papilloma Mesenchymal Malignant UCC- (TCC) - papillary - CIS Adenocc SQCC Sarcoma Lymphoma Metastatic Infiltration” Tumors of the bladder Malignant UCC -papillary - CIS Tumors of the bladder Bladder cancer - etiology Smoking Arylamine, 2-naphthylamine Schistosomiasis Analgetics Cyclophosphamide Radiation injury Chr. abnormalities 9p,9q deletion (superfitial papillary, rarely flat lesions) 9 monosomy, 17p deletion (p53) 13q, 11p,14q deletion Papillary tumors- Nomenclature, STAGE Papilloma Papilloma Grade I PUNLMP Low Grade Grade II Grade III High Grade WHO WHO/ISUP CIS Gr. III flat”
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