Published on

  • Be the first to comment

No Downloads
Total views
On SlideShare
From Embeds
Number of Embeds
Embeds 0
No embeds

No notes for slide


  1. 1. Morning Report Nephrology Team Sharla Hays, M.D. August 9, 2004
  2. 2. <ul><li>12yo Caucasian female presents to nephrology clinic for evaluation secondary to father’s recent death from kidney disease and significant family history of kidney disease. </li></ul><ul><li>She is asymptomatic with no signs or symptoms of kidney disease </li></ul><ul><li>No hospitalizations, no surgeries </li></ul><ul><li>NKDA </li></ul><ul><li>Lives in El Paso with mother and 9 yr old brother, active in sports, and does well in school </li></ul>
  3. 3. Pedigree This is our patient
  4. 4. Exam <ul><li>VS T36.5 P84 BP 123/57 R 20 </li></ul><ul><li>Wt 69kg (>95%) Ht174.5cm (>95%) </li></ul><ul><li>Gen-healthy, NAD </li></ul><ul><li>HEENT-normal findings </li></ul><ul><li>Chest-clear </li></ul><ul><li>Heart-RRR without murmur, pulses 2+ </li></ul><ul><li>Abd-+BS, soft, non-tender, non-distended, no HSM, no mass or kidneys palpable </li></ul><ul><li>Ext-no c/c/e </li></ul>
  5. 5. <ul><li>Problem List ? </li></ul><ul><li>Differential for Hereditary kidney diseases? </li></ul><ul><li>(answers on next slide) </li></ul>
  6. 6. Differential for Hereditary Kidney Diseases <ul><li>Autosomal Dominant Polycystic Kidney Disease </li></ul><ul><li>Autosomal Recessive Polycystic Kidney Disease </li></ul><ul><li>Thin Basement Membrane Disease </li></ul><ul><li>Alport Syndrome </li></ul><ul><li>Juvenile Nephronothisis </li></ul><ul><li>Medullary Cystic Disease </li></ul><ul><li>Sickle Cell Disease </li></ul><ul><li>Tubular Disorders (Cystinosis) </li></ul>
  7. 7. Labs <ul><li>Hgb/Hct: 13/38, Plt: 330K </li></ul><ul><li>Na 143, K 4.2, Cl 106, HCO3 25, Ca 9.8 </li></ul><ul><li>BUN 18, Cr 0.9 </li></ul>
  8. 8. Labs <ul><li>Renal US-multiple cysts of varying sizes are identified in both kidneys. In the right kidney cyst measures 2x2 cm, second cyst measures 1x1 cm, and a third cyst in the mid pole measures 1.3 cm. The left kidney also has various cyst. The mid pole there is a two small cyst (both <1cm). The third cyst is also <1cm. No evidence of solid mass or hydronephrosis. </li></ul>
  9. 9. Cystic Diseases of the Kidney <ul><li>Autosomal Dominant Polycystic Kidney Disease </li></ul><ul><li>Autosomal Recessive Polycystic Kidney Disease </li></ul><ul><li>Multicystic Dysplastic Kidney Disease </li></ul>
  10. 10. Autosomal Dominant Polycystic Kidney Disease <ul><li>Characterized by cystic dilation in all parts of the nephron including Bowman’s space </li></ul><ul><li>Focal with areas of normal and abnormal nephrons interspersed </li></ul><ul><li>Cysts in the liver, pancreas, and other organs are common </li></ul><ul><li>Incidence at birth 1:400-1000, but rarely identified prenatally </li></ul><ul><li>PKD1 gene abnormality responsible for 90% </li></ul>
  11. 11. ADPKD continued <ul><li>Clinical manifestations usually present in the fourth decade with chronic flank pain and intermittent hematuria </li></ul><ul><ul><li>Account for 10-15% of ESRD </li></ul></ul><ul><li>Familial incidence of childhood presentation </li></ul><ul><li>Affected children can develop renal symptoms of ADPKD including gross or microscopic hematuria, hypertension, cyst infection, and renal insufficiency </li></ul>
  12. 12. ADPKD continued <ul><li>Diagnosis usually established by US </li></ul><ul><ul><li>Reveals diffuse hyperechogenicity, enlarged kidneys, and cysts, usually bilateral </li></ul></ul><ul><ul><li>Criteria for ADPKD: <30 at least 2 cyst in one kidney, 30-60 at least 2 cyst in each kidney,and >60y at least 4 cyst per kidney </li></ul></ul><ul><li>Prenatal US-kidneys may look normal or appear enlarged and echogenic </li></ul><ul><ul><li>If either parent has ADPKD the finding of enlarged echogenic kidneys in fetus confirms prenatal diagnosis </li></ul></ul>
  13. 13. ADPKD continued <ul><li>Child presenting in first year of life usually do not progress rapidly to ESRD </li></ul><ul><li>Most have few or no symptoms and present as adults </li></ul><ul><li>Renal insufficiency usually develops after age of 30 </li></ul>
  14. 14. Polycystic kidney Polycystic Kidney
  15. 15. Liver cysts
  16. 16. Autosomal Recessive Polycystic Kidney Disease <ul><li>Also called Infantile Polycystic Kidney disease </li></ul><ul><li>Nonobstructive dilatation or ectasia of the collecting tubules in the renal medulla </li></ul><ul><ul><li>Results in microcysts of 1-2mm </li></ul></ul><ul><li>Severity proportional to percentage of nephrons affected by cysts </li></ul><ul><li>Hepatic involvement with cysts, fibrosis, and portal hypertension </li></ul><ul><ul><li>Also called congenital hepatic fibrosis </li></ul></ul>
  17. 17. ARPKD continued <ul><li>Incidence 1:40,000-50,000 </li></ul><ul><li>Typically presents in infancy </li></ul><ul><li>Clinical manifestations included hyponatremia during first weeks of life, reduced concentrating ability, decreased urinary acidification capacity leads to metabolic acidosis, and recurrent pyuria </li></ul><ul><li>Hypertension common early </li></ul><ul><li>ESRD usually after 15yr of age </li></ul>
  18. 18. ARPKD continued <ul><li>Neonatal presentation with profound respiratory compromise secondary to oligohydramnios </li></ul><ul><li>Older Children (4-8y) hepatic disease predominates </li></ul><ul><ul><li>23% experience variceal bleeding by 12y </li></ul></ul><ul><li>Prenatal US-enlarged kidneys with increased echogenicity </li></ul><ul><li>In children, kidney size is typically at least 2 standard deviations greater than normal </li></ul>
  19. 19. Multicystic Dysplastic Kidney <ul><li>Severe form in which the kidney consists of a group of cysts with some connective tissue, but no identifiable renal tissue </li></ul><ul><li>Defect is an abnormality of ureteral bud leading to atresia or absence of ureter </li></ul><ul><li>Often associated with antenatal obstruction of urinary tract due to PUV, prune-belly, or UPJ </li></ul><ul><li>Most unilateral, left kidney affected most commonly </li></ul>
  20. 20. MCDK continued <ul><li>Incidence 1:3000, boys>girls </li></ul><ul><li>Most common cause of abdominal mass in newborn period </li></ul><ul><ul><li>Palpable flank mass in otherwise healthy infant </li></ul></ul><ul><li>Reported in a variety of syndromes </li></ul><ul><ul><li>Beckwith-Wiedemann, Trisomy 18, VACTERL </li></ul></ul>
  21. 21. MCDK continued <ul><li>US-kidney grossly enlarged with loss of reniform shape and ureter is atretic or absent and multiple variably size, noncommunicating cysts separated by little or no echogenic parenchyma </li></ul><ul><li>DMSA absence of function in affected kidney </li></ul><ul><li>VCUG to evaluate for VUR </li></ul><ul><li>US every 6-12mo until age 5 or involution </li></ul>
  22. 22. MCDK continued <ul><li>Role of nephrectomy controversial </li></ul><ul><ul><li>Recommended to treat or prevent abdominal/flank pain, UTI, hypertension, or renal malignancy </li></ul></ul><ul><li>Lifetime follow up despite involution or nephrectomy secondary to complications </li></ul><ul><ul><li>Hypertension, UTI, proteinuria, renal malignancy </li></ul></ul>
  23. 23. Multicystic Kidney on Ultrasound