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HEREDITARY DISORDERS

0 0 Sunday, August 23, 2020 Edit this post

Q.274. How can you suspect a hereditary form of G. nephritis?

 


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Revise please the abbreviation list on:

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Q.274. How can you suspect a hereditary form of G. nephritis?

A. Pres. of Gross hematuria + F.H. of R.F. + Sensorineural deafness + ocular mnf. (anterior lenticonus), in a male (x-linked) = Suug.: Alport’s Synd. (hered-itary nephritis).

Q.275. How to confirm diagnosis of Alport’s syndrome? 

hereditary kidney disorders inherited renal disorders hereditary renal conditions hereditary renal tubular disorders hereditary renal cystic disorders what kidney diseases are hereditary is renal disease hereditary hereditary renal disease hereditary renal failure hereditary renal disease ppt can kidney problems be hereditary what causes renal cystic disease

 

A. Laminated appearance of G.B.M. due to longitudinal splitting of the “Lamina Densa” is diagnostic of Alport’s in immunostain of R. biopsy.

v  A less invasive test: “Skin Biopsy”: incubated + monoclonal A.B., anti a-5-type IV. Collagen 🠊No staining in X-linked Alport’s, but:👉discontinued staining in female carriers. Normal staining occ. é [autosomal dominant Alport’s-thin B.M. dis. & other G.pthies].

Q.276. How can you D.D. Alport’s fr. other common causes of Glomerular hematuria?

A. Other common causes incl.: IgA. Np. (Gross hematuria + No F.H. + post respiratory infc.) & Thin B.M. dis.:” Benign familial hematuria” (microscopic hematuria + F.H. + benign course i.e. No R.F.).

Q.277. What are the clinical manifestations & diagnosis of hereditary nephritis (Alport’s syndrome)?

A. Alport ‘s is a genetic heterog. dis. results fr. mutations in genes encoding a-3, a-4 & a-5(IV) chains of type IV collagen. X-linked, autos. recessive & autos. dominant forms of the dis. account for 80, 15 & 5 % of cases, resp.. Abn. of a-3, a-4, or a-5 (IV) cha-ins of type IV collagen cause: B.M. impairment in the glomerulus, eye & inner ear. C.P. us. based upon clinical manif. of affected males é X-linked dis..: G. dis. progress to ESRD, ocular abn. (ant. lenticonus), sensorineural hearing loss &+ve F.H. of R.F. & hearing loss. Auto. recess. disease hv similar C.P. & course, while autos. dom. disease hv a slower deterioration of R. function.

Initial R. manif. aSm.tic microscopic hematuria. S. cr. & B.P.: normal in early childhood, but progressive R.I., H.T. & proteinuria dev. é time. ESRD us. occ.  between 16 & 35 y., but course is more indolent in some families. Dgx. us. susp. fr. F.H. of R.F. & deafness. Confirm. of Dgx. is made by either skin or R. biopsy. EM: Classical Alport's syndrome due to X-linked hereditary nephritis. There’s prominent lamination and fraying of the GBM.