1 / 27

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.

im
Download Presentation

CASE DISCUSSION

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript


  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

More Related