Multicystic Dysplastic Kidney

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Multicystic Dysplastic Kidney

  1. 1. Multicystic Dysplastic Kidney Ayman Abou Mehrem, MD, CABP Neonatology Fellow September 28, 2010
  2. 2. Objectives <ul><li>Case presentation of a patient with ? Syndromic multicystic dysplastic kidney </li></ul><ul><li>Review of MCDK etiology, presentation, and management. </li></ul>
  3. 3. Case presentation <ul><li>Maternal history: </li></ul><ul><ul><li>23 year old, Caucasian, G 3 P 0 TA 1 SA 1 </li></ul></ul><ul><ul><li>Blood group A+ </li></ul></ul><ul><ul><li>HBV, HIV, VDRL negative </li></ul></ul><ul><ul><li>Chlamydia, gonorrhea negative </li></ul></ul><ul><ul><li>Rubella, and varicella immune </li></ul></ul><ul><ul><li>GBS (?) unknown </li></ul></ul><ul><ul><li>No DM, no HTN </li></ul></ul><ul><ul><li>Smoking about 8 cig/day </li></ul></ul><ul><ul><li>No alcohol, no street drugs </li></ul></ul>
  4. 4. Case presentation <ul><li>Maternal history: ….cont’d </li></ul><ul><ul><li>Initially, the pregnancy was unremarkable </li></ul></ul><ul><ul><li>US @ 11 wks  normal </li></ul></ul><ul><ul><li>Routine US @ 21 wks: </li></ul></ul><ul><ul><ul><li>Oligohydramnios </li></ul></ul></ul><ul><ul><ul><li>Small amount of ascites </li></ul></ul></ul><ul><ul><ul><li>Prominent soft tissue edema (cranial, neck, abdomenal wall) </li></ul></ul></ul><ul><ul><ul><li>No pericardial or pleural effusions </li></ul></ul></ul><ul><ul><ul><li>Two kidneys noted, tiny amount of fluid in the bladder </li></ul></ul></ul><ul><ul><ul><li>EGA= 20 wks ± 10 days </li></ul></ul></ul>
  5. 5. Case presentation <ul><li>Maternal history: ….cont’d </li></ul><ul><ul><li>Amniocentesis: </li></ul></ul><ul><ul><ul><li>QF-PCR: 46, XY </li></ul></ul></ul><ul><ul><ul><li>AF-AFP: 22.1 mg/L = 4.48 MoM (N < 2.00 MoM) </li></ul></ul></ul><ul><ul><ul><li>Risk of spina bifida 1:5 </li></ul></ul></ul><ul><ul><ul><li>CMV, Toxo PCR: negative </li></ul></ul></ul>
  6. 6. Case presentation <ul><li>Maternal history: ….cont’d </li></ul><ul><ul><li>Multiple visits to FAU </li></ul></ul><ul><ul><li>US @ 29 wks: </li></ul></ul><ul><ul><ul><li>Cystic enlargement of the Lt kidney </li></ul></ul></ul><ul><ul><ul><li>Ascites and pleural effusion resolved </li></ul></ul></ul><ul><ul><ul><li>Borderline oligohydramnios </li></ul></ul></ul><ul><ul><li>Betamethasone given </li></ul></ul><ul><ul><li>Seen by Neonatology team @ 30 wks </li></ul></ul>
  7. 7. Case presentation <ul><li>Maternal history: ….cont’d </li></ul><ul><ul><li>US @ 36 wks: </li></ul></ul><ul><ul><ul><li>BPP 4/8 </li></ul></ul></ul><ul><ul><ul><li>Decreased end-diastolic flow </li></ul></ul></ul><ul><ul><ul><li>Frank breech </li></ul></ul></ul><ul><ul><li>Non reassuring CTG </li></ul></ul>
  8. 8. Case presentation <ul><li>Delivery Room management: </li></ul><ul><ul><li>Emergency LSCS </li></ul></ul><ul><ul><li>Absent respiration, bradycardia </li></ul></ul><ul><ul><li>PPV < 1 min  free flow O 2 </li></ul></ul><ul><ul><li>Respiratory distress  nCPAP </li></ul></ul><ul><ul><li>AS 2 1 , 6 5 , 8 10 </li></ul></ul><ul><ul><li>Cord ABG: </li></ul></ul><ul><ul><ul><li>pH 7.0, PCO 2 103, HCO 3 14, BE -12 </li></ul></ul></ul>
  9. 9. Case presentation <ul><li>Clinical Examination: </li></ul><ul><ul><li>Growth parameters: </li></ul></ul><ul><ul><ul><li>Wt: 3250g </li></ul></ul></ul><ul><ul><ul><li>HC: 34.5 cm </li></ul></ul></ul><ul><ul><ul><li>Length: 46 cm </li></ul></ul></ul><ul><ul><li>General: </li></ul></ul><ul><ul><ul><li>Moderate generalized edema </li></ul></ul></ul><ul><ul><ul><li>Pinkish on O 2 </li></ul></ul></ul><ul><ul><ul><li>Petechiae allover the body </li></ul></ul></ul>
  10. 10. Case presentation <ul><li>Clinical Examination: </li></ul><ul><ul><li>Dysmorphic features: </li></ul></ul><ul><ul><ul><li>Box shaped head </li></ul></ul></ul><ul><ul><ul><li>Up slanting palpebral fissures </li></ul></ul></ul><ul><ul><ul><li>Small nose </li></ul></ul></ul><ul><ul><ul><li>Micrognathia </li></ul></ul></ul><ul><ul><ul><li>Short neck </li></ul></ul></ul><ul><ul><ul><li>Bilateral palmar transverse crease </li></ul></ul></ul>
  11. 11. Case presentation <ul><li>Clinical Examination: </li></ul><ul><ul><li>CNS: wide soft AF, no abnormalities </li></ul></ul><ul><ul><li>CVS: normal pulses, BP. No murmur. </li></ul></ul><ul><ul><li>Respiratory: mild RD, bilaterally ↓ air entry </li></ul></ul><ul><ul><li>GI: engorged abd wall veins, liver 2 cm ↓RCM </li></ul></ul><ul><ul><li>GU: grossly edematous, coronal hypospadias, testes in the scrotum. </li></ul></ul><ul><ul><li>MSK: hip dislocation </li></ul></ul>
  12. 12. Case presentation <ul><li>Impression: </li></ul><ul><ul><li>Non immune hydrops fetalis </li></ul></ul><ul><ul><li>Rule out: </li></ul></ul><ul><ul><ul><li>Cardiac causes </li></ul></ul></ul><ul><ul><ul><li>Genetic and metabolic causes </li></ul></ul></ul><ul><ul><li>Congenital renal anomaly </li></ul></ul>
  13. 13. Case presentation <ul><li>NICU course: on admission: </li></ul><ul><ul><li>TFI 65 ml/kg/day, D10W, NPO </li></ul></ul><ul><ul><li>Blood culture, Ampicillin + Cefotaxime </li></ul></ul><ul><ul><li>NCPAP +8 </li></ul></ul><ul><ul><li>CXR </li></ul></ul><ul><ul><li>Trial to insert urinary catheter failed. </li></ul></ul><ul><ul><li>CBC: low platelets (71) </li></ul></ul>
  14. 14. Case presentation
  15. 15. Case presentation <ul><li>1 st day of life: </li></ul><ul><ul><li>NCPAP was discontinued @ 20 hrs age </li></ul></ul><ul><ul><li>Hemodynamically stable </li></ul></ul><ul><ul><li>Same TFI </li></ul></ul><ul><ul><li>Urine output 0.8 ml/kg/hr </li></ul></ul><ul><ul><li>At 12 hrs age: </li></ul></ul><ul><ul><ul><li>BUN 4.7, Cr 124, Na 126, K 3.3 </li></ul></ul></ul><ul><ul><ul><li>ALT 679, AST 2235, GGT 67, ALK 67, Alb 11 </li></ul></ul></ul>
  16. 16. Case presentation <ul><li>1 st day of life: </li></ul><ul><ul><li>Abdominal and renal US: </li></ul></ul><ul><ul><ul><li>Lt multicystic dysplastic kidney, 7.3 x 4.1 x 4.8 cm </li></ul></ul></ul><ul><ul><ul><li>Rt kidney smallish, 3.2 x 2.1 x 1.8 cm </li></ul></ul></ul><ul><ul><ul><li>Urinary bladder is minimally distended </li></ul></ul></ul><ul><ul><ul><li>No ascites </li></ul></ul></ul><ul><ul><li>Nephrology consultation: </li></ul></ul><ul><ul><ul><li>Renal failure </li></ul></ul></ul><ul><ul><ul><li>Foley’s catheter </li></ul></ul></ul><ul><ul><ul><li>VCUG </li></ul></ul></ul>
  17. 17. Case presentation <ul><li>LK </li></ul>
  18. 18. Case presentation <ul><li>RK </li></ul>
  19. 19. Case presentation <ul><li>1 st day of life: </li></ul><ul><ul><li>Cranial US: </li></ul></ul><ul><ul><ul><li>Some slight asymmetric fullness in the left caudothalamic groove with tiny bit of cystic change that may represent a small amount of subepindymal bleeding </li></ul></ul></ul><ul><ul><ul><li>Otherwise normal </li></ul></ul></ul>
  20. 20. Case presentation <ul><li>2 nd day of life: </li></ul><ul><ul><li>Urine output 3.1 ml/kg/hr </li></ul></ul><ul><ul><li>BUN 6, Cr 159, Na 129, K 2.9, Ca 1.54 </li></ul></ul><ul><ul><li>Plt 35 </li></ul></ul><ul><ul><li>Antibiotics discontinued </li></ul></ul><ul><ul><li>Transfer to HSC for further management </li></ul></ul>
  21. 21. Case presentation <ul><li>In HSC, 3 rd day of life: </li></ul><ul><ul><li>BUN 6.6, Cr 187, Plt 20 </li></ul></ul><ul><ul><li>Nephrology: </li></ul></ul><ul><ul><ul><li>No need for Foley’s </li></ul></ul></ul><ul><ul><ul><li>Furosemide 1 mg/kg/dose bid </li></ul></ul></ul><ul><ul><ul><li>Meeting with the family: expected mortality 50% in the 1 st year, need for peritoneal dialysis </li></ul></ul></ul>
  22. 22. Case presentation <ul><li>In HSC, 3 rd day of life: </li></ul><ul><ul><li>Repeated US: </li></ul></ul><ul><ul><ul><li>Lt multicystic dysplastic kidney, 6.4 cm </li></ul></ul></ul><ul><ul><ul><li>Rt kidney smallish, 3.5 cm, ↑ echogenicity, poor corticomedullary differentiation, mild pelvic dilatation </li></ul></ul></ul><ul><ul><ul><li>Urinary bladder is minimally distended </li></ul></ul></ul><ul><ul><ul><li>Minimal intraperitoneal fluid </li></ul></ul></ul>
  23. 23. Case presentation <ul><li>LK </li></ul>
  24. 24. Case presentation
  25. 25. Case presentation
  26. 26. Case presentation <ul><li>In HSC, other consultations: </li></ul><ul><ul><li>Echocardiography: </li></ul></ul><ul><ul><ul><li>Small PDA, L  R shunt, PFO </li></ul></ul></ul><ul><ul><ul><li>Normal LV function </li></ul></ul></ul><ul><ul><ul><li>TR, with gradient 40 mmHg </li></ul></ul></ul><ul><ul><ul><li>MPA pressure estimated to be moderately increased  mild PPHN </li></ul></ul></ul>
  27. 27. Case presentation <ul><li>In HSC, other consultations: </li></ul><ul><ul><li>Genetics: </li></ul></ul><ul><ul><ul><li>Non immune hydrops fetalis, most probably secondary to the renal disease </li></ul></ul></ul><ul><ul><ul><li>Rule out metabolic diseases </li></ul></ul></ul><ul><ul><ul><li>Lactate, ammonia, metabolic screen, ferritin, transferrin isoelectric focusing, ATP assay, palmitate oxidation, VLCFA, total and free carnitine, DNA banking </li></ul></ul></ul>
  28. 28. Case presentation <ul><li>In HSC, other consultations: </li></ul><ul><ul><li>Infectious diseases: </li></ul></ul><ul><ul><ul><li>Non immune hydrops fetalis, most probably secondary to the renal disease </li></ul></ul></ul><ul><ul><ul><li>Rule out infectious causes </li></ul></ul></ul><ul><ul><ul><li>Parvovirus B19: tested by PCR and IgM </li></ul></ul></ul><ul><ul><ul><li>TORCH, adenovirus, HSV </li></ul></ul></ul><ul><ul><ul><li>Syphilis, non treponemal tests </li></ul></ul></ul><ul><ul><li>Ophthalmology: normal </li></ul></ul>
  29. 29. Case presentation <ul><li>5 th day of life: </li></ul><ul><ul><li>Urine output 3.8 ml/kg/day </li></ul></ul><ul><ul><li>BP is normal </li></ul></ul><ul><ul><li>BUN 6.8, Cr 187, Plt 36 </li></ul></ul><ul><ul><li>PD catheter was inserted. </li></ul></ul>
  30. 30. Case presentation <ul><li>10 th day of life: </li></ul><ul><ul><li>Urine output 3.5 ml/kg/day </li></ul></ul><ul><ul><li>BP is normal </li></ul></ul><ul><ul><li>BUN 21.5, Cr 120, Plt 27 </li></ul></ul><ul><ul><li>Transferred to CK-5. </li></ul></ul>
  31. 31. Multicustic Dysplastic Kidney <ul><li>History: </li></ul><ul><ul><li>The terms multicystic and polycystic were used interchangeably in discussing the kidney </li></ul></ul><ul><ul><li>In 1955, Spence stressed that these terms designated completely different entities. </li></ul></ul>Wein: Campbell-Walsh Urology, 9 th ed., 2007 Saunders, Chapter 114 – Renal Dysgenesis and Cystic Disease of the Kidney
  32. 32. Multicustic Dysplastic Kidney <ul><li>Cystic Renal Dysplasia: </li></ul><ul><ul><li>By microscopic features, is an anomaly of differentiation of the fetal kidney, that contains primitive ducts and nonrenal tissues such as cartilage, fat, hematopoietic tissue, and often cysts. </li></ul></ul><ul><ul><li>MCDK is the most severe form. </li></ul></ul>Patrick Niaudet, Renal cystic diseases in children, UpToDate 2010
  33. 33. Embryology Wein: Campbell-Walsh Urology, 9 th ed., 2007 Saunders, Chapter 114 – Renal Dysgenesis and Cystic Disease of the Kidney
  34. 34. Embryology Wein: Campbell-Walsh Urology, 9 th ed., 2007 Saunders, Chapter 114 – Renal Dysgenesis and Cystic Disease of the Kidney
  35. 35. Etiology <ul><li>1 st theory: </li></ul><ul><ul><li>Multicystic kidney is an extreme form of hydronephrosis </li></ul></ul><ul><ul><li>Secondary to atresia of the ureter or pelvis </li></ul></ul><ul><ul><li>Ligation of the ureter in animal models  dysplasia, but no multicystic dysplasia </li></ul></ul>
  36. 36. Etiology <ul><li>2 nd theory: </li></ul><ul><ul><li>Failure of the union between the ureteric bud and the metanephric blastema </li></ul></ul><ul><ul><li>Cystic dilatation in the metanephric blastema </li></ul></ul><ul><ul><li>The ampullae stop dividing early, therefore produce fewer generations of tubules </li></ul></ul><ul><ul><li>The last generation of tubules produced is cystic and does not induce metanephric differentiation </li></ul></ul>
  37. 37. Etiology Normal (A) and dysplastic kidney development (B) Winyard P, Chitty LS. Dysplastic kidneys. Semin Fetal Neonatal Med. 2008 Jun;13(3):142-51.
  38. 38. Etiology <ul><li>Mitogen expression: Matsell 1996 </li></ul><ul><ul><li>Over expression of IGF-II and IGFBP-2, and absent IGFBP-3 in the cystic tissues. </li></ul></ul><ul><li>Expression of genes active in nephrogenesis and anti-apoptosis (e.g., WT1, PAX2, WNT4, BCL2), whereas in other areas a lack of expression of these genes might be associated with increased cell death. </li></ul>Matsell DG, Bennett T, Armstrong RA, Goodyer P, Goodyer C, Han VK. Insulin-like growth factor (IGF) and IGF binding protein gene expression in multicystic renal dysplasia. J Am Soc Nephrol. 1997 Jan;8(1):85-94.
  39. 39. Genetics <ul><li>Mostly sporadic </li></ul><ul><li>Case reports about familial type </li></ul><ul><li>AD inheritance </li></ul><ul><li>Watanabe et al described a case diagnosed of MCDK in a mother and her fetus diagnosed by fetal MRI. </li></ul>Watanabe T, Yamazaki A, Kurabayashi T, Hanaoka J. Familial multicystic dysplastic kidney. Pediatr Nephrol. 2005 Aug;20(8):1200. Epub 2005 May 24.
  40. 40. Genetics <ul><li>Associated with many malformations and syndromes </li></ul><ul><li>Bilateral MCDK is associated more with non-renal and chromosomal anomalies </li></ul>
  41. 41. Avner, Ellis D.; Harmon, William E.; Niaudet, Patrick, Pediatric Nephrology, 5th Edition, 2004 Lippincott Williams & Wilkins, Chapter 6 – Syndromes and Malformations of the Urinary Tract. Potter (oligohydramnios) sequence Prune-belly syndrome Renal adysplasia Roberts syndrome Rokitansky-Mayer-Kuster-Hauser syndrome Rubella syndrome, congenital Short rib-polydactyly syndrome Smith-Lemli-Opitz syndrome Thalidomide embryopathy Trisomy 8, 9, 13, 18, 21, and 22 Tuberous sclerosis VATER (VACTERL) association von Hippel Lindau disease Zellweger and pseudo-Zellweger syndromes Fryns syndrome Glutaric aciduria, type II Goldenhar syndrome Hajdu-Cheney syndrome Ivemark syndrome Jeune syndrome Joubert syndrome Kaufman-McKusick syndrome Lenz microphthalmia syndrome Leprechaunism (Donohue) syndrome Limb body wall complex Marden-Walker syndrome Marfan syndrome Marshall-Smith syndrome Meckel-Gruber syndrome MURCS association Noonan syndrome OEIS complex Oral-facial-digital syndrome, types I and VI Pallister-Hall syndrome Pallister-Killian syndrome Acro-renal-mandibular syndrome Alagille syndrome (arteriohepatic dysplasia) Baller-Gerold syndrome Bardet-Biedl syndrome Beckwith-Wiedemann syndrome Branchio-oto-renal syndrome Campomelic dysplasia Carbohydrate deficient glycoprotein syndrome CHARGE association Chondrodysplasia punctata, nonrhizomelic Cloacal exstrophy Cornelia de Lange syndrome Diabetic mother, infant of Ectrodactyly-ectodermal dysplasia-clefting syndrome Fanconi anemia syndrome Fetal alcohol syndrome Fraser (cryptophthalmos) syndrome Syndromes Associated with Renal Dysplasia/Cystic Kidney
  42. 42. Pathology <ul><li>No reniform configuration, and no calyceal drainage system is present </li></ul><ul><li>Appearance of “a bunch of grapes” </li></ul><ul><li>Little stroma between the cysts </li></ul><ul><li>Renal size is highly variable, from slightly less than normal to enormous </li></ul><ul><li>Three types: </li></ul><ul><ul><li>Typical MCDK </li></ul></ul><ul><ul><li>Solid cystic dysplasia </li></ul></ul><ul><ul><li>Hydronephrotic form </li></ul></ul>
  43. 43. Pathology A typical multicystic kidney having the appearance of a bunch of grapes Wein: Campbell-Walsh Urology, 9 th ed., 2007 Saunders, Chapter 114 – Renal Dysgenesis and Cystic Disease of the Kidney
  44. 44. Pathology Nonfunctioning solid cystic dysplastic kidney Wein: Campbell-Walsh Urology, 9 th ed., 2007 Saunders, Chapter 114 – Renal Dysgenesis and Cystic Disease of the Kidney
  45. 45. Pathology Wein: Campbell-Walsh Urology, 9 th ed., 2007 Saunders, Chapter 114 – Renal Dysgenesis and Cystic Disease of the Kidney Hydronephrotic form of multicystic kidney
  46. 46. Histopathology <ul><li>Kakkar et al 2006: </li></ul><ul><ul><li>Reviewed 92 autopsies with renal dysplasia: </li></ul></ul><ul><ul><ul><li>Primitive ducts with the fibromuscular collar: all cases </li></ul></ul></ul><ul><ul><ul><li>Lobar disorganization: all cases except for the 7 cases of hypodysplasia </li></ul></ul></ul><ul><ul><ul><li>Cysts: all cases except for the 7 cases of hypodysplasia </li></ul></ul></ul><ul><ul><ul><li>Cartilage: 33.7% </li></ul></ul></ul><ul><ul><ul><li>Bone: 1.08% </li></ul></ul></ul><ul><ul><ul><li>Thickening of basement membrane of the primitive ducts: 64.13% </li></ul></ul></ul><ul><ul><ul><li>Extramedullary hematopoiesis: 98.9% </li></ul></ul></ul><ul><ul><ul><li>Nerve twigs: 72.8% </li></ul></ul></ul><ul><ul><ul><li>nodular renal blastema: 2.17% </li></ul></ul></ul>Kakkar N, Menon S, Radotra BD. Histomorphology of renal dysplasia--an autopsy study. Fetal Pediatr Pathol. 2006 Mar-Apr;25(2):73-86.
  47. 47. Histopathology <ul><li>20 – 30% of cases exhibits some form of limited dysplasia in the other kidney </li></ul>Avner, Ellis D.; Harmon, William E.; Niaudet, Patrick, Pediatric Nephrology, 5th Edition, 2004 Lippincott Williams & Wilkins, Chapter 5 – Renal Dysplasia/Hypoplasia.
  48. 48. Epidemiology <ul><li>Incidence 1 in 3600 live births </li></ul><ul><li>Male : Female 1.5 – 2.4:1 for unilateral </li></ul><ul><li>1:2 for bilateral </li></ul><ul><li>Left > Right </li></ul>
  49. 49. Clinical manifestation <ul><li>Asymptomatic </li></ul><ul><li>Abdominal mass: considered the most common cause of an abdominal mass in the newborn </li></ul><ul><li>Renal failure in the newborn period </li></ul><ul><li>Potter’s sequence </li></ul><ul><li>19 – 34%  bilateral </li></ul><ul><li>3 – 12%  contralateral UPJ obstruction </li></ul><ul><li>18 – 43%  contralateral VUR </li></ul>Wein: Campbell-Walsh Urology, 9 th ed., 2007 Saunders, Chapter 114 – Renal Dysgenesis and Cystic Disease of the Kidney
  50. 50. Clinical manifestation <ul><li>As neonatologists, we may see one more presentation! </li></ul><ul><ul><li>Antenatally diagnosed MCKD </li></ul></ul>
  51. 51. Antenatal diagnosis <ul><li>Typical presentation: </li></ul><ul><ul><li>At 20-week scan  large bright kidneys, with or without cystic spaces </li></ul></ul>Winyard P, Chitty LS. Dysplastic kidneys. Semin Fetal Neonatal Med. 2008 Jun;13(3):142-51.
  52. 52. Antenatal diagnosis <ul><li>Another ultrasounds presentation </li></ul>Winyard P, Chitty LS. Dysplastic kidneys. Semin Fetal Neonatal Med. 2008 Jun;13(3):142-51.
  53. 53. Antenatal diagnosis <ul><li>The degree of abnormality is a key indicator, which can be addressed via the following questions: </li></ul><ul><ul><li>How abnormal is the size? </li></ul></ul><ul><ul><li>How bright is the kidney? </li></ul></ul><ul><ul><li>Are cysts visible? </li></ul></ul><ul><ul><li>Are cysts multiple? (if ‘yes’ @ 20 weeks, then it is more likely to be MCDK) </li></ul></ul><ul><ul><li>What is the liquor volume? </li></ul></ul><ul><ul><li>Are there other abnormalities on a detailed anomaly scan, suggesting a multi-organ syndrome? </li></ul></ul>Winyard P, Chitty LS. Dysplastic kidneys. Semin Fetal Neonatal Med. 2008 Jun;13(3):142-51.
  54. 54. Antenatal diagnosis <ul><li>Other important aspects: </li></ul><ul><ul><li>Family history of renal or other diseases (particularly diabetes, as outlined with TCF2/HNF1ß mutations below) </li></ul></ul><ul><ul><li>An ultrasound scan of the parents’ kidneys </li></ul></ul><ul><ul><li>Referral to genetics </li></ul></ul><ul><ul><li>Other investigations, such as karyotype or specific testing, as indicated </li></ul></ul>Winyard P, Chitty LS. Dysplastic kidneys. Semin Fetal Neonatal Med. 2008 Jun;13(3):142-51.
  55. 55. Antenatal management <ul><li>Confirm the diagnosis as early as possible </li></ul><ul><li>Choice of termination of the pregnancy </li></ul><ul><li>Uncertainty! </li></ul><ul><ul><li>Reversion to normal </li></ul></ul><ul><ul><li>Progression </li></ul></ul><ul><ul><li>Involution </li></ul></ul><ul><li>Prognosis depends on the other kidney </li></ul>Winyard P, Chitty LS. Dysplastic kidneys. Semin Fetal Neonatal Med. 2008 Jun;13(3):142-51.
  56. 56. Postnatal diagnosis <ul><li>Initial diagnosis: US </li></ul><ul><li>VCUG: Ismaili et al 2005 </li></ul><ul><ul><li>To assess if 2 successive US examinations could rule out the presence of clinically significant contralateral anomalies in neonates with MCDK </li></ul></ul><ul><ul><li>Followed 76 newborn infants with antenatally discovered MCDK </li></ul></ul><ul><ul><li>US within the first week and @ around 1 mo </li></ul></ul><ul><ul><li>VCUG and isotopic studies were performed in all infants </li></ul></ul>Ismaili K, Avni FE, Alexander M, Schulman C, Collier F, Hall M. Routine voiding cystourethrography is of no value in neonates with unilateral multicystic dysplastic kidney. J Pediatr. 2005 Jun;146(6):759-63.
  57. 57. Postnatal diagnosis <ul><li>VCUG: Ismaili et al 2005 </li></ul><ul><ul><li>61 (80% of total) had normal contralateral urinary tract on the 2 successive neonatal renal US scans </li></ul></ul><ul><ul><li>4 of 61 (7%) with low-grade VUR on VCUG  resolved spontaneously before 2 years of age </li></ul></ul><ul><ul><li>Two successive normal neonatal renal ultrasound scans will rule out clinically significant contralateral anomalies </li></ul></ul><ul><ul><li>Routine VCUG is unnecessary </li></ul></ul>
  58. 58. Postnatal diagnosis <ul><li>Nuclear scans </li></ul><ul><ul><li>Dynamic study: </li></ul></ul><ul><ul><ul><li>99m Tc-DTPA is purely glomerular agent  GFR </li></ul></ul></ul><ul><ul><ul><li>99m Tc-MAG is partly secreted by renal tubules </li></ul></ul></ul><ul><ul><li>Static study: </li></ul></ul><ul><ul><ul><li>99m Tc-DMSA for renal scaring </li></ul></ul></ul><ul><li>In MCDK: </li></ul><ul><ul><li>Dynamic study is used to detect any residual function. </li></ul></ul>
  59. 59. Postnatal diagnosis Wiener, Multicystic Dysplastic Kidney Imaging. Medscape 2010
  60. 60. Medical conditions perceived to be associated with MCDK <ul><li>Psooy 2007: systematic review </li></ul><ul><ul><li>Wilms’ tumour </li></ul></ul><ul><ul><li>Hypertension </li></ul></ul><ul><ul><li>Vesicoureteral reflux and urinary tract infection </li></ul></ul><ul><ul><li>Chronic renal insufficiency/end-stage renal disease </li></ul></ul>Psooy K. Multicystic dysplastic kidney in the neonate: the role of the urologist. Can Urol Assoc J. 2010 Apr;4(2):95-7.
  61. 61. Psooy 2007: systematic review <ul><li>Classified MCDK into: </li></ul><ul><ul><li>Simple is defined as unilateral dysplasia with a normal contralateral kidney with compensatory hypertrophy and no associated genitourinary anomalies detected by ultrasound or physical examination. </li></ul></ul><ul><ul><li>Complex is defined as bilateral dysplasia or abnormalities of the contralateral kidney or genitourinary tract detected by ultrasound or physical examination. </li></ul></ul>
  62. 62. Wilms’ tumour <ul><li>The increased risk of developing Wilms’ tumour appears negligible, if not nonexistent, and does not warrant surveillance (Level 3 evidence) . </li></ul>
  63. 63. Hypertension <ul><li>Review of published cohort studies of MCDK suggested the risk developing hypertension was no higher than that of the general pediatric population </li></ul>
  64. 64. VUR and UTI <ul><li>The overall incidence of contralateral VUR is higher in those with MCDK than the general population </li></ul><ul><li>The likeliness of having MCDK associated VUR is significantly higher in those whose ultrasound shows contralateral renal abnormalities, in comparison to those who do not (Level 3 evidence) . </li></ul><ul><li>On a continuum, those with “simple” MCDK have the lowest risk of UTI (7%).; those with “complex” MCDK are at the highest risk of UTI (29%) (Level 3 evidence) . </li></ul>
  65. 65. Chronic renal insufficiency/ESRD <ul><li>The contralateral kidney in those with “simple” MCDK does not warrant urological follow-up. </li></ul><ul><li>The contralateral kidney in those with “complex” MCDK warrants urological and/or nephrological follow-up depending on the associated abnormalities identified (Level 3 evidence) . </li></ul><ul><li>Children with a normal solitary functioning kidney have a small risk of future renal insufficiency (Level 3 evidence) . </li></ul>
  66. 66. Outcome <ul><li>Feldenberg et al 2000: </li></ul><ul><ul><li>Outcome of 35 patients </li></ul></ul>Feldenberg LR, Siegel NJ. Clinical course and outcome for children with multicystic dysplastic kidneys. Pediatr Nephrol 2000;14:1098-101.
  67. 67. Outcome <ul><li>Feldenberg et al 2000: </li></ul>
  68. 68. Involution <ul><li>Most MCDKs become smaller and involute during a period of follow-up </li></ul><ul><li>Siqueira Rabelo 2006: </li></ul><ul><ul><li>Clear tendency of MCDK (91% of cases) to decrease in size, with the rate of the involution greater during the first 30 months than the rate in older children </li></ul></ul>Siqueira Rabelo EA, Oliveira EA, Silva JM, Oliveira DS, Colosimo EA. Ultrasound progression of prenatally detected multicystic dysplastic kidney. Urology. 2006 Nov;68(5):1098-102. Epub 2006 Nov 7.
  69. 69. Involution <ul><li>Al-Ghwery 2005: </li></ul><ul><ul><li>Follow-up US examinations showed partial involution in 17 (48.6%), complete involution in 13 (37.1%), and 5 (14.3%) showed an unchanged size without any pathological manifestations. </li></ul></ul><ul><ul><li>No child developed complications such as hypertension or tumors, and all maintained normal growth and development. </li></ul></ul>Al-Ghwery S, Al-Asmari A. Multicystic dysplastic kidney: conservative management and follow-up. Ren Fail. 2005;27(2):189-92.
  70. 70. Nephrectomy <ul><li>Is not indicated routinely </li></ul><ul><li>Indications: </li></ul><ul><ul><li>Pain/discomfort </li></ul></ul><ul><ul><li>Increasing abdominal distension </li></ul></ul><ul><ul><li>Poor feeding </li></ul></ul><ul><ul><li>Hypertension </li></ul></ul>
  71. 71. Back to the case presentation <ul><li>Day of life 13 : </li></ul><ul><ul><li>Urine output 5.4 ml/kg/day </li></ul></ul><ul><ul><li>BUN 13.5, Cr 86, Plt not done </li></ul></ul><ul><ul><li>Hematology consultation: Rule out: </li></ul></ul><ul><ul><ul><li>NAIT  mom +dad blood for type. </li></ul></ul></ul><ul><ul><ul><li>Marrow hypoxia </li></ul></ul></ul><ul><ul><ul><li>Congenital thrombocytopeniawith malformations </li></ul></ul></ul>
  72. 72. Case presentation
  73. 73. Case presentation
  74. 74. Case presentation
  75. 75. Case presentation * * * Plt transfusion
  76. 76. Case presentation
  77. 77. Issues <ul><li>Dysmorphism </li></ul><ul><li>Lt MCDK, Rt dysplastic kidney </li></ul><ul><li>Cholestasis </li></ul><ul><li>Thrombocytopenia </li></ul>
  78. 78. Diagnosis ? Syndrome ?
  79. 79. Differential <ul><li>Alagille Syndrome?! </li></ul><ul><li>The clinical diagnostic criteria for Alagille syndrome (AGS) include the following: </li></ul><ul><ul><li>The histologic finding of bile duct paucity </li></ul></ul><ul><ul><li>Three of the following five major clinical features (in addition to bile duct paucity): </li></ul></ul><ul><ul><ul><li>Cholestasis </li></ul></ul></ul><ul><ul><ul><li>Cardiac defect (most commonly stenosis of the peripheral pulmonary artery and its branches) </li></ul></ul></ul><ul><ul><ul><li>Skeletal abnormalities (most commonly butterfly vertebrae identified in AP chest radiographs) </li></ul></ul></ul><ul><ul><ul><li>Ophthalmologic abnormalities (most commonly posterior embryotoxon) </li></ul></ul></ul><ul><ul><ul><li>Characteristic facial features </li></ul></ul></ul>
  80. 80. THANK YOU

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