Morning Report Nephrology Team

1. Morning ReportNephrology Team Sharla Hays, M.D. August 9, 2004

2. 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. She is asymptomatic with no signs or symptoms of kidney disease No hospitalizations, no surgeries NKDA Lives in El Paso with mother and 9 yr old brother, active in sports, and does well in school

3. Pedigree

4. Exam VS T36.5 P84 BP 123/57 R 20 Wt 69kg (>95%) Ht174.5cm (>95%) Gen-healthy, NAD HEENT-normal findings Chest-clear Heart-RRR without murmur, pulses 2+ Abd-+BS, soft, non-tender, non-distended, no HSM, no mass or kidneys palpable Ext-no c/c/e

5. Problem List ? Differential for Hereditary kidney diseases? (answers on next slide)

6. Differential for Hereditary Kidney Diseases Autosomal Dominant Polycystic Kidney Disease Autosomal Recessive Polycystic Kidney Disease Thin Basement Membrane Disease Alport Syndrome Juvenile Nephronothisis Medullary Cystic Disease Sickle Cell Disease Tubular Disorders (Cystinosis)

7. Labs Hgb/Hct: 13/38, Plt: 330K Na 143, K 4.2, Cl 106, HCO3 25, Ca 9.8 BUN 18, Cr 0.9

8. Labs 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.

9. Cystic Diseases of the Kidney Autosomal Dominant Polycystic Kidney Disease Autosomal Recessive Polycystic Kidney Disease Multicystic Dysplastic Kidney Disease

10. Autosomal Dominant Polycystic Kidney Disease Characterized by cystic dilation in all parts of the nephron including Bowman’s space Focal with areas of normal and abnormal nephrons interspersed Cysts in the liver, pancreas, and other organs are common Incidence at birth 1:400-1000, but rarely identified prenatally PKD1 gene abnormality responsible for 90%

11. ADPKD continued Clinical manifestations usually present in the fourth decade with chronic flank pain and intermittent hematuria Account for 10-15% of ESRD Familial incidence of childhood presentation Affected children can develop renal symptoms of ADPKD including gross or microscopic hematuria, hypertension, cyst infection, and renal insufficiency

12. ADPKD continued Diagnosis usually established by US Reveals diffuse hyperechogenicity, enlarged kidneys, and cysts, usually bilateral 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 Prenatal US-kidneys may look normal or appear enlarged and echogenic If either parent has ADPKD the finding of enlarged echogenic kidneys in fetus confirms prenatal diagnosis

13. ADPKD continued Child presenting in first year of life usually do not progress rapidly to ESRD Most have few or no symptoms and present as adults Renal insufficiency usually develops after age of 30

16. Autosomal Recessive Polycystic Kidney Disease Also called Infantile Polycystic Kidney disease Nonobstructive dilatation or ectasia of the collecting tubules in the renal medulla Results in microcysts of 1-2mm Severity proportional to percentage of nephrons affected by cysts Hepatic involvement with cysts, fibrosis, and portal hypertension Also called congenital hepatic fibrosis

17. ARPKD continued Incidence 1:40,000-50,000 Typically presents in infancy Clinical manifestations included hyponatremia during first weeks of life, reduced concentrating ability, decreased urinary acidification capacity leads to metabolic acidosis, and recurrent pyuria Hypertension common early ESRD usually after 15yr of age

18. ARPKD continued Neonatal presentation with profound respiratory compromise secondary to oligohydramnios Older Children (4-8y) hepatic disease predominates 23% experience variceal bleeding by 12y Prenatal US-enlarged kidneys with increased echogenicity In children, kidney size is typically at least 2 standard deviations greater than normal

19. Multicystic Dysplastic Kidney Severe form in which the kidney consists of a group of cysts with some connective tissue, but no identifiable renal tissue Defect is an abnormality of ureteral bud leading to atresia or absence of ureter Often associated with antenatal obstruction of urinary tract due to PUV, prune-belly, or UPJ Most unilateral, left kidney affected most commonly

20. MCDK continued Incidence 1:3000, boys>girls Most common cause of abdominal mass in newborn period Palpable flank mass in otherwise healthy infant Reported in a variety of syndromes Beckwith-Wiedemann, Trisomy 18, VACTERL

21. MCDK continued 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 DMSA absence of function in affected kidney VCUG to evaluate for VUR US every 6-12mo until age 5 or involution

22. MCDK continued Role of nephrectomy controversial Recommended to treat or prevent abdominal/flank pain, UTI, hypertension, or renal malignancy Lifetime follow up despite involution or nephrectomy secondary to complications Hypertension, UTI, proteinuria, renal malignancy