Urinary system Development Teratology kidney Intermediary mesoderm: •Pronephros • 3rd week, C • Ductus mesonephricus (Wolffi) •Mesonephros • 4th week, C6-L3 •Metanephros • 5th week, L4-S h2j_mesoblaste DevBio8e-Fig-14-21-1 balinsky t3b_devmesonephro pronephros mesonephros metanephros + ureteric bud m1b_SchnittStd10 - paraaxial - intermediary mesoderm - lateral loadBinaryCA82AUH2 figurelarge14-2 loadBinaryCAQFGWX6 loadBinaryCAW2EFTX Močový systém - 35 Kidney development Nephron development Nephron glomerulus loadBinaryCAS6MWYI Ascensus renis Cloaca development IMJ24244-1 Blast%E8me Sinus urogenitalis: -canalis vesicourethralis -pars pelvina -pars phalica Cloaca •Septum urorectale – sinus urogenitalis + rectum (cloacal membrane – urogenital m. + anal m.) •Sinus urogenitalis - canalis vesicourethralis ð urinary bladder, ♀ uretra - pars pelvina ð ♂ pars prostatica et diaphragmatica uretrhrae - pars phalica ð ♂ pars phalica urethrae • ♀ vestibulum vaginae Močový systém - 37 ♀ - vestibulum vaginae Wolffian duct (ductus mesonephricus) and ureteric bud trigone%20v%E9sical 60A0A-male prostate seminal vesicles Cloacal epithelium – from ndoderm Epithelium of trigonum vesicae – from mesoderm Congenital malformations of urinary system pie_urogen Hypoplasia – small kidney Reflux – Hydronephrosis – urine stasis Congenital malfromations (CM) •1. CM of kidney •2. CM of pelvis and ureter •3. CM of urinary bladder •4. CM of urethra KIDNEY_anim 1. CM of kidney •anomalies of number •anomalies of shape •anomalies of postion (ectopia) •anomalies of parenchyma (nephrodysplasia) •anomalies of vessels • •Kidney malformations arrise at the begining of development (development of metanefros isn‘t induced by ureteric bud or both kidney are closely together – before week 6) or later (during incomplete ascensus renis – after week 8). Agenesis renis • •bilateral (1 : 3000; prenatal dg. – oligohydramnion, hypotrophic fetus, skeleton deformities and lung hypoplasia due to fetus oppresion) - (death by uremia and drespiratory distress) •unilateral (1 : 1500) + agenesis of ipsilateral ureter and renal vessels; •etiology: absence of metanephros, ureteric bud did not develop or did not reach metanephros (regression) – metanephros development was not induced •– genetic disposition • • • qu 1 – kidnye agenesis 2 – kidnye agenesis + cross ectopia of ureter t6a_agenesie t6e_ectocrois 1 2 Supernumerary kidney (2-3 % newborns) Ren duplex •unilateral or bilaterl •+ pelvis duplex and partially or completely ureter fissus or ureter duplex •etiology: 2 ureteric buds or branching of one bud in proximal end • 1 – ren duplex et ureter duplex, 2 – ureter fissus t6d_ectopihaut t6b_surnum 1 2 Shape malformations of kidney: Horse-shaped kidney (ren arcuatus) 1:500 •etiology: fusion of lower pole of both metanephros in front of large vessels (aorta + v.cava inf.) •fused parenchyma = isthmus „brakes“ ascensus renis bellow detachment of a. mesenterica inf. (+position anomaly - ektopia) and rotation (+ malrotation; hilus – ventrally), ureters run in front of isthmus –[+ renal vessels duplication] > http://www.md.ucl.ac.be/didac/anat110/Urog%E9nital/Malf%20reins.png http://www.embryology.ch/images/timgurinary/065pathologie/t6g_ferachev.gif A – ren arcuatus B – ren fungiformis C – ren sigmoideus A B C Anomaly of the shape + ektopia: urine stasis – hydronefrosis + vesicaureteric reflux secondary infections Position anomalies: Ectopia of kidney uni-, bilat. •- ren pelvicus (ren sacralis, ren lumbalis): retention of kidney during ascensus renis •- cross ectopia: both ureters grow into metanephros on one side or during ascensus renis one kidney transfers on the oposit side and fuse with the other kidney http://www.embryology.ch/images/timgurinary/065pathologie/t6e_ectopibas.gif http://www.embryology.ch/images/timgurinary/065pathologie/t6b_surnum.gif http://www.embryology.ch/images/timgurinary/065pathologie/t6e_ectocrois.gif Ren pelvicus + ren + ureter duplex Cross ectopia Malrotation (or hyperrotation) of kidney •is connected with ectopia or anomaly of kidney shape •hilus – ventrally (embryonic position) or dorsaly • •Notice:(normal adult position of hilus is medial) t6c_anomrotat • •diffuse cystic malformation (always bilat.) – cystic degeneration of kidney •2 forms of polycystic disease: • - autosomally dominant type [˝adult˝ macrocystic form] • - autosomally recesive type [˝infantil˝ microcystic form] Defekts of parenchyma: Polycystic kidneys nephrodysplasia polycystica polycystickidney autosomally dominant type [APCD – Adult Polycystic Disease] •Disease manifests in adulthood (after 30th); 1:400 - 1000, probability of transmission to offspring is 50 %; •etiol.: patol. genes on 4th and 16th chromosomes – insufficient polycystin production (membrane protein necessary for differentiation of cells in renal tubules). •Klinic manifestation: bilat. enlarged kidney, macroscopic cysts, abdominal and/or lumbal pain, hematuria, hypertension, infections, renal insufficiency and failure. •Dg.: (FA), abdomen palpation, sono event. CT •Th.: symptomatic, decelerate progression of disease, renal failure – renal funcions have to be compensated (hemodialysis, peritoneal dialysis, transplantation) Image pict4415 Image pict4416 Polycystic kidney – macroscopic cysts are seen also on the kidney surface autosomally recesive type [ IPCD - ˝infantil˝ form] •1 : 40.000, probability of transmission to offspring - 25 % children of healthy parents „disease carriers˝; •+ anomalies also in liver, spleen, lungs, •etiol.: unclear - defect of ureter development (nephrons are not connected with collecting ducts) •Klinic manifestation: bilat. enlarged kidneey, hypertension, decreased glomerular filtration, renal failure. To a lesser extent of damage 50-80 % children can live about 15 years. Some children die shortly after birth by lung failure. •Prenatal dg. in week 9 of i.u.dev. – FA, DNA markers. •Th.: same as in PCHLAD • ng0302-247-I1 3386 Polycystic kidney – cysts are not seen on the surface of kidney Hypoplasia renis • •Insuficiently developed kidney – small, small amount of histologically normal and functional nephrons •usually unilateral •compenzational hypertrofia of the other kidney hbp_fig1_zoom cm-3 loadBinaryCAYJ325M A – unilateral renal agenesis B – pelvic ren + ureter bifidus C – kidney malrotation + ren duplex D – crossed ectopia E – „pancake“ kidney F – supernumerary kidney Wilms‘ tumor (nephroblastom) •The most frequent type of tumors in chidren under 5 years, rare in adulthood •90% treatment succes, also in case of greater distribution (metastasis) •familiar occurrence – tumor contais cells of mesonephros •etiology: - hereditary basis qu Thesaurismosis („storage disease“) • •A metabolic disorder in which a substance is stored in certain cells of some organs, usually in large amounts, due to defect production of enzymes splitting this substance. It causes functional failure of storing organs •Etiol.: defected gen in auto- or heterosomes, usually recessive inheritance • •Anderson-Fabry disease (storage of cerebrosides = neutral sphingolipids), •von Gierke disease (storage of glycogen), •Gaucher disease (storage of glukocerebrosides), •Fanconi sy. (storage of cystine; cystinóza, cystinurie) •Primary hyperoxaluria – cong. defect of glykooxalates production (storage of oxalates; urolithiasis). •Cong. defects of metabolism of purines – familiary gouty juvenile nephropathy + artritis already in the 2nd dacede of life. Anomalies of renal vascularization •Arise during ascensus renis – accesory arteries from a. iliaca and aorta (there are NOT collaterals between arteries! – obstruction causes infarction of renal parenchyma) •supernumerary veins (with collaterals) • •accesory arteries – 25 %, veins - 12,5 % Renal renculi kidney9 Unassigned 2. CM of pelvis and ureter •Ureter duplex, ureter fissus (+ pelvis duplex, ren duplex) •unilat. or bilat., partial or completel •etiology: branching or accesory ureteric bud http://www.embryology.ch/images/timgurinary/065pathologie/t6m_dupliccompl.gif http://www.embryology.ch/images/timgurinary/065pathologie/t6l_duplicpart.gif http://www.embryology.ch/images/timgurinary/065pathologie/t6d_ectopihaut.gif Ectopic defects of ureter •ectopia of orificium ureteris –ureter opens into urethra, uterus or vagina (rarely into ductus deferens) • •cross ectopia of ureter, „retrocava″ ureter – t6j_retrocav http://www.embryology.ch/images/timgurinary/065pathologie/t6e_ectocrois.gif Congenital stenosis, obstructions, atresis •Physiol. ureter narrowings: 1.pelvi-uretral junction, 2.crossing with vasa iliaca, 3.pars intramuralis – ureter-vesical junction. • t6k_obstruct 1 2 3 3. CM of urinary bladder •Extrophia 1 : 40.000 (2-3 ♂ : 1♀) •Ventral abdominal wall and ventral wall of urinary bladder are not formed; urinary bladder is opened and inner surface of its dorsal wall is visible (+ epispadia and cleft of symphysis (diastasis) • Click to see larger picture Extrophia •etiol.: defect of mezenchyme migration between ectoderm of abdominal wall and cloaca in week 4 •Reconstruction of the wall (24 - 48 h after birth), epispadia (about 2nd year). • qu Sy. prune – belly •1 : 40 000 •Trias of syndromes: 1. agenesis of muscles in abdominal wall 2. obstruction of urinary bladder in region of internal • urethral ostium (dilatation of bladder, megaureters and • hydronephrosis – above obstruction) 3. bilateral kryptorchism •Etiol.: unclear hormonal treatment (estrogens) of mother during the 1st trimestr was frequently find in anamnesis •Prognosis: viability depends on number of functional nephrons at birth. • Prune Belly Picture from 1896 qu defect obliteration of ductus allantoideus – •urachal cysts and fistulae (a, b) •urachus patens (c) http://www.embryology.ch/images/timgurinary/065pathologie/t6q1_kystouraq.gif http://www.embryology.ch/images/timgurinary/065pathologie/t6q2_fistborgne.gif http://www.embryology.ch/images/timgurinary/065pathologie/t6q3_fistouraq.gif a b c 4. CM or urethra •Clefts of urethra: •Hypospadia insufficient fusion of plicae genitales •Epispadia see extrophia • Figure H 34 Figure E 22 hypospadiasfig1 circ-main Sources of pictures: •http://www.embryology.ch/genericpages/moduleorganoen.html •embryology.med.unsw.edu.au/.../BGDlabXYXX_5.htm. •www.embryology.ch/.../genitinterne06.html. •www.emedicine.com/ped/topic704.htm. •embryology.med.unsw.edu.au/Defect/page4.htm. •www.childrenskidneydisease.org/Stories.asp. • • • • Vývoj zevního genitálu a uzavření uretry ♂ masculin circ-main Zdroje pro vývoj zevního genitálu: Tuberculum genitale Plicae genitales (urethrales) Tori genitales (plicae labioscrotales) Vývoj nefronu Močový systém - 9 Metanefros graphic11 DevBio8e-Fig-14-29-1 Močový měchýř, ureter