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CASE DISCUSSION

CASE DISCUSSION. Presenter:R1 郭舒涵 Date: 2016/01/19. Patient profile. Name: 林 O 軫 Chart number: 17334XXX Age: 10 y/o Gender: female Occupation: Student Admission date: 2015/12/28 Chief complaint: hematuria on school healthy exam. Present illness.

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CASE DISCUSSION

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  1. CASE DISCUSSION Presenter:R1 郭舒涵 Date: 2016/01/19

  2. Patient profile • Name:林O軫 • Chart number: 17334XXX • Age: 10 y/o • Gender: female • Occupation: Student • Admission date: 2015/12/28 • Chief complaint: • hematuria on school healthy exam

  3. Present illness • This 10-year-old girl denied any underlying disease before • She had incidental finding of hematuria on school healthy exam since 2 years ago, but her family didn't take care about it • Denied gross hematuria • Denied tea- or cola-colored urine • Until 2 month ago, microscopic hematuria was reported again on school healthy exam • She visited LMD where renal echo showed hydronephrosis refer to our OPD • 12/16 Nephrology OPD U/A and renal echo

  4. Present illness(2) • She denied fever, chills, dizziness, dyspnea, cough, rhinorrhea, nausea, vomiting, abdominal pain, diarrhea, constipation, dysuria, urinary burning sensation or decreased urine output. • Her appetite and activity was fair as usual. • Sudden onset of left flank pain developed on 12/27 • intermittent, dull pain, relieved by rest in supine position but progressed on 12/28 • She denied recent trauma history or flank sprain • Visit our ER

  5. Personal History • Birth History: G2P2,C/S(pre-C/S),GA: full term, BBW:3000g, DOIC(-), PROM(-), APGAS score: unknown • Denied hospitalization history • No underlying disease • Vaccination history: as schedule • Growth and development: as milestone • 身高141cm(50%-85%) • 體重33.2Kg(50%-85%) • TOCC history: denied

  6. Family history

  7. Physical Examination • Vital signs: T=36.5℃ P=76 /min R=20 /min BP=120/68 mmHg • General Appearance: fair looking • Appetite: fair Activity: fair • Consciousness: clear • HEENT: • Sclerae: anicterus • Conjunctivae: not injected • Eardrum: intact and not injected • Throat: not injected • NECK: supple, no lymphadenopathy • CHEST: • Breath pattern: smooth, bilateral symmetric expansion • No suprasternal retraction, no subcostal retraction • Breathing sound: bilateral clear and symmetric breathing sound • HEART: • Heart sound: regular heart beat, no murmur • ABDOMEN: soft and flat no tenderness no rebounding pain no muscle guarding • Percussion: dullness • Bowel sound: normoactive • Hepatosplenomegaly: no • BACK: No knocking pain over flank area • EXTREMITIES: Freely movable, No pitting edema, Peripheral pulse: symmetric • SKIN: No rash no petechiae or ecchymosis

  8. 12/16 U/A microscopic hematuria and mild proteinuria

  9. 12/28 Lab data

  10. 12/28 U/A Still microscopic hematuria and mild proteinuria

  11. Renal echo • left mild hydronephrosis with renal swelling and parenchymal change • No stone or occupied mass lesion

  12. Differential Diagnosis of Hematuria • Upper urinary tract disease: within the nephron (glomerulus, convoluted or collecting tubules, and interstitium) • brown, cola or tea colored, or burgundy urine • RBC casts • deformed urinary RBCs (particularly acanthocytes) • proteinuria >100 mg/dL via dipstick • Lower urinary tract disease: from the pelvocalyceal system, ureter, bladder, or urethra • bright red or pink gross hematuria • terminal hematuria (gross hematuria at the end of the urine stream) • blood clots • normal urinary RBC morphology • minimal proteinuria on dipstick (<100 mg/dL). Nelson Pediatrics 19th

  13. Nelson Pediatrics 19th

  14. Acute nephritic syndrome • Classic symptoms of acute nephritic syndrome: • Tea- or cola-colored urine • facial or body edema • Hypertension • Oliguria • Hematuria associated with glomerulonephritis is typically painless but it can be associated with vague flank or abdominal pain Nelson Pediatrics 19th

  15. Manifestation of acute nephritic syndrome • A history of recent upper respiratory, skin, or gastrointestinal infection •  IgA nephropathy, postinfectious glomerulonephritis, hemolytic-uremic syndrome, or HSP nephritis • Rash and joint complaints  HSP nephritis or SLE nephritis • Family history of renal disease such as PKD or hereditary nephritis • These glomerular diseases can also manifest as microscopic hematuria and/or proteinuria without gross hematuria. Nelson Pediatrics 19th

  16. Indication of Renal Biopsy • Children with persistent microscopic hematuria • Children with recurrent gross hematuria associated with decreased renal function, proteinuria, or hypertension

  17. Impression • Chronic, recurrent microscopic hematuria and mild proteinuria, suspect Hereditary glomerular diseases • Hereditary nephritis (Alport syndrome) • Thin glomerular basement membrane disease(benign familial hematuria) • IgA nephropathy • Diagnostic plan: Arrange renal biopsy • Therapeutic plan: Enalapril(5mg) 1 tab QD Plan

  18. Echo-guided renal biopsy on 12/29 • PATHOLOGIC DIAGNOSIS: • Kidney, biopsy: Compatible with Alport's syndrome. • MICROSCOPIC FINDING: • Light Microscope: Glomerular number 14 G • 1. Mild expansion of mesangial matrix with borderline mesangial hypercellularity. • 2. Mild irregularity of glomerular basement membrane. • 3. No global or segmental glomeruloscelerosis. • 4. No crescent formation. • 5. Minimal tubular atrophy and interstitial fibrosis. • 6. Minimal mononuclear infiltration in the interstitium. • Immunofluorescent microscope: Glomerular number 3 G • (Diffuse/Focal, GLobal/Segmental, GRanular/Linear, • Capillary/Mesangium, -/TRace/+/++/+++) • IgA: - C1q: - • IgG: - C3: - • IgM: - C4: - • Electron Microscope (EM104-108): Glomerular number 6 G • 1. Alternating thinning and thickening of glomerular basement membrane with lamination of the thickened areas. • 2. Basket-woven appearance of thickened glomerular basement membrane. • 3. No electron densedeposition in capillary walls. • 4. Focal segmental effacement of foot processes of visceral epithelial cells (10-20%). • 5. Mild expansion of mesangial matrix without electron-dense deposition. • 6. Glomerular basement membrane thickness: range from 150~180nm to 300~460nm.

  19. DISCUSSION Alport syndrome(AS)

  20. Genetics • Genetically heterogeneous disease caused by mutations in the genes coding for type IV collagen, a major component of basement membranes • X-linkedAS(~85%): mutation in COL4A5 gene, encoding the α5 chain of typeIV collagen • Autosomal recessive AS: mutation in both COL4A3 and COL4A4 genes on chromosome 2, encoding the α3 and α4 chains of typeIV collagen, respectively • Autosomal dominant AS(5%) :COL4A3-COL4A4 gene locus

  21. Clinical manifestations(1) • Asymptomatic microscopic hematuria, which may be intermittent in girls and younger boys • Single or recurrent episodes of gross hematuria commonly occurring 1-2 days after an upper respiratory infection are seen in approximately 50% of patients • Proteinuria is often seen in boys but may be absent, mild, or intermittent in girls • Progressive proteinuria, often exceeding 1 g/24 hr, is common by the 2nd decade of life and can be severe enough to cause nephrotic syndrome

  22. Clinical manifestations(2) • Bilateral sensorineural hearing loss(never congenital) : • 90% of hemizygous males with X-linked AS • 10% of heterozygous females with X-linked AS • 67% of patients with autosomal recessive AS • High frequency range(2000-8000 Hz)  conversational speech  need for hearing aids • Hematuria and proteinuria  Hearing loss  renal insufficiency • Ocular abnormalities : 30-40% X-linked AS • Anterior lenticonus • Macular flecks • Corneal erosions(recurrent, non-traumatic)

  23. Diagnosis • family history • Screening urinalysis of first-degree relatives • Audiogram • ophthalmologic examination • diagnostic renal biopsy • Mutation screening or linkage analysis is not readily available for routine clinical use.

  24. Prognosis • Risk of progressive renal dysfunction leading to ESRD is highest among hemizygotes and autosomal recessive homozygotes. • ESRD before 30 y/o : 75% of X-linked hemizygotes AS • ESRD before 40 y/o : 12% of X-linked heterozygotes AS ; 30% by age 60 y/o • Risk factors for progression : • gross hematuria during childhood • nephrotic syndrome(persistent and progressive proteinuria) • prominent GBM thickening

  25. Treatment • No specific therapy is available to treat AS • Steroid : no role in altering the clinical course • Cyclosporin : reversible improvement of glomerular permeability in p’t with proteinuria • Angiotensin-converting enzyme inhibitors(ACEI) : slow the rate of progression • Careful management of renal failure complications such as hypertension, anemia, and electrolyte imbalance • Dietary protein restriction or antihypertensive therapy • Patients with ESRD are treated with dialysis and kidney transplantation (mainstay)

  26. Take home message • Alport’s syndrome is a disease that pediatricians should consider in the differential diagnosis of hematuria • The initial finding is usually asymptomatic hematuria followed by proteinuria • In those with microscopic hematuria, proteinuria indicates the need of kidney biopsy • Following the progress of proteinuria and renal function provides some powerful clues to predict prognosis

  27. THANKS FOR YOUR ATTENTION

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