case 1 bilateral renal agenesis

Special case conference 31 Case 1

Special case conference 1 37 2.5 epicanthic fold (receding chin) (tapering fingers) (anuria) 2

1.

Bilateral renal agenesis(Classic Potters Syndrome)

Bilateral renal agenesis Bilateral renal agenesis 2 3,000 (oligohydramnios)

2.

Development of urinary system

Intermediate mesoderm 3 Pronephros

Mesonephros (embryonic kidney) Metanephros (permanent kidney)

Pronephros

4 cervical segment intermediate mesoderm pronephric tubule pronephric duct Caudal part pronephric duct => mesonephric duct

Mesonephros (Embryonic kidney)

4 (caudal pronephros) mesonephric tubule mesonephric duct

Metanephros (Permanent kidney)

Metanephros (permanent kidney) 5 2

1. Ureteric (metanephric diverticulum) collecting

system of kidney 2. Metanephric blastema (mesoderm) gxHocorpuscle ,renal tuble

Development of metanephric excretory unit ureteric bud mesenchyme

Metanephric blastema

A

B

WT1

Fibroblast growth factor-2 (FGF-2) & Bone morphogenetic protein-7 (BMP-7) PAX2 & WNT4

Pathogenesisrenal agenesis 5 -7 ureteral bud formation kidney metanephric tissue gene ,transcription factor growth factor ureteric bud metanephric blastema 1. WT-1 Homozygous- renal agenesis branchiootorenal syndrome 2. GDNF - GDNF C-ret receptor ureteric bud ureteric bud GDNF renal agenesis

Pathogenesis3. mutation Homozygous alpha-8 integrin subunit renal aplasia ,renal dysplasia ,renal hypoplasia 4. TF EMX-2 ,BF-2 ,FGF-7 ,EGF-R ,GDNF ,retinoic acid receptor alpha beta 2 ureteric bud 5. mutation bmp 4- Heterozygous unilateral renal agenesis

Pathology renal agenesis urine

urine oligohydramnios pulmonary hypoplasia (underdeveloped lungs) respiratory distress oligohydramnios intrauterine compression limb deformities Potter facies

3.

3-4 4-5

FUNCTIONS OF AMNIOTIC FLUID Shock absorber protects from external

trauma. Protects cord from compression. Permits fetal movements development

of musculoskeletal system, prevents adhesions.

FUNCTIONS OF AMNIOTIC FLUID Swallowing of AF enhances growth &

development of GIT.

FUNCTIONS OF AMNIOTIC FLUID AF volume maintains AF pressure

reduces loss of lung liquid pulmonary development. Maintenance of fetal body temperature. fetal nutrition, water supply.

Bacteriostatic properties decreases

potential for infection

1.) bilateral renal agenesis, bilateral renal obstruction infantile polycystic kidney disease 2.) 3.) 2 preterm premature rupture of membrane (PPROM) pulmonary hypoplasia

4.) - 2 prostaglandin synthetase inhibitor angiotensin converting enzyme(ACE) indomethacin - glomerular filtration rate ductus arteriosus 5.) 41 APGAR 15

4.

Potter facies 1)Transcription factor Eya-1 metanephric mesenchyme

pharyngeal region 2) intrauterine compression fetus flattened nose recessed chin prominent epicanthal folds upper eyelid low-set abnormal ears

Potter facies

Orbital hypertelorism

Flattened nose

low-set abnormal ears

recessed chin

Epicanthal folds

Potters syndrome Potters syndrome fetus(neonatal) (oligohydramnios= decreased amniotic fluid volume) secondary renal diseases

Potters syndrome 23 urine fetal

fetus reabsorb GI amniotic cavity kidneys expand supplying proline amino acid oligohydramnios pulmonary hypoplasia (underdeveloped lungs) respiratory distress

Potters syndrome Potters Syndrome Edith Louise

Potter 1946 bilateral renal agenesis Potters Syndrome 5 subclass 1. Classic Potters Syndrome - bilateral renal agenesis 2. Potter Syndrome Type I Autosomal Recessive Polycystic Kidney Disease (ARPKD) mutation gene PKHD1.

Potters syndrome 3.Potter Syndrome Type II

- Renal Adysplasia (RA), - hereditary renal adysplasia (HRA). - Bilateral renal agenesis (BRA) extreme variation renal adysplasia 4.Potter Syndrome Type III - Autosomal Dominant Polycystic Kidney Disease (ADPKD) mutations in the genes PKD1 and PKD2

Potters syndrome 5. Potter Syndrome Type IV

kidney ureter cystic kidneys genetics Orther - Potters syndrome

5.

Pulmonary hypoplasia

Pulmonary hypoplasia 4-6 Proline collagen mesenchyme Proline ( fetal urine)

Pulmonary hypoplasia

Pulmonary hypoplasiaPulmonary hypoplasia alveolar pulmonary arteries epithelium surfactant

Pulmonary hypoplasia

! 2 1. ; - respiratory failure - acute renal failure 2. ; - chronic lung disease or chronic renal failure

(Robert Roger Lebel MD ,1994) Renal agenesis with out lung hypoplasia Monozygous twin Bilateral renal agenesis co-twin renal lung co-twin amniotic fluid

6.

1.Skeletal malformations:, limb anomalies- clubbed feet and/or bowing of legs , Sirenomelia , Lobster-claw malformation

Skeletal malformations: Hemivertebrae, sacral agenesis, and limb anomalies- clubbed feet and/or bowing of legs ,

2 Ophthalmologic malformations: Cataract- , angiomatous ( )malformation in the optic disc area, prolapse of the lens, and expulsive hemorrhage 3 Cardiovascular malformations: Ventricular septal defect, endocardial cushion defect, tetralogy of Fallot, and patent ductus arteriosus 4 gastrointestinal malformation - anal atresia, absence of the rectum and sigmoid colon, esophageal and duodenal atresia, and a single umbilical artery

5. genital malformation - the vas deferens and seminal vesicles may be absent, -while in females the uterus and upper vagina may be absent

7 Eagle-Barrett (prune belly) syndrome: occasional cause of the Potter sequence 3

Anterior abdominal wall musculature ("stomach muscles") deficient or absent Urinary tract anomalies (such as a very large bladder) Bilateral cryptorchidism (two undescended testicles) 2

7 Eagle-Barrett (prune belly) syndrome

1. 2. 3. 4. 5. 6. 7. 8. 9.

References ,2545, , 4, .Behrman ,Kliegman and Jenson .2000.Textbook of Pediatrics. ed 16th .Nelson. Jay.Y gillen Water.2002. Adult and pediatric Urology ed 4thvol.3.Lippin Cott. Jean W. Keeling. 2000. Fetal and neonatal pathology. . ed 2th.Springer-Verlag. Keth L. Moore . 2000. The Developing Human http://www.smj.ejnal.com/e-journal/showdetail/?show_preview=T&art_id=413 Volume 18 Number 1 21 .2553 http://www.prunebelly.org/ 21 .2553 http://emedicine.medscape.com/article/983477-overview 21 .2553 http://www.potterssyndrome.org/ 21 .2553

10. http://www.potterssyndrome.org/pottersfaqs.html 21 .2553