HEREDITORY NEPHRITIS - A CASE SERIES
Abstract
Alport syndrome is a primary basement
membrane disorder whose most common
and earliest manifestation is gross
or microscopic hematuria. Hematuria is
usually persistent in males and may be
intermittent in females. Bilateral sensorineural
hearing loss is a characteristic
feature observed frequently, but not universally.
Anterior lenticonus is the ocular
manifestation seen associated with 15 -
20 percent of patients.2 pairs of siblings
with Alport syndrome that presented to
our OPD at the same time period are
hereby presented. Two of them presented
with features of renal failure while
two others presented with altered sensorium.
All the four cases had sensory
neural hearing loss and anterior lenticonus.
We present this case series as
they all presented as sporadic cases
without any significant family history.
Keyword :Alport syndrome, hereditary
nephritis
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PDFReferences
Grunfeld JP, The clinical spectrum
of hereditary nephritis, Kidney
Int 1985;27:83
Eleri W. Williams and A. Neil
Turner, Glomerular basement
membrane disorders and the kidney,
volume 39,issue 8, August
, Pages 475-477
Tryggvason K, Zhou J, Hostikka
SL, Shows TB, Molecular genetics
of Alport syndrome, Kidney Int.
;43(1):38.
Longo I, Porcedda P, Mari F, Giachino
D, Meloni I, Deplano C,
Brusco A, Bosio M, Massella L, Lavoratti
G, Roccatello D, Frascá G,
Mazzucco G, Muda AO, Conti M,
Fasciolo F, Arrondel C, Heidet L,
Renieri A, De Marchi M ,COL4A3/
COL4A4 mutations: from familial
hematuria to autosomal-dominant
or recessive Alport syndrome, Kidney
Int. 2002;61(6):1947.
Yoshioka K, Hino S, Takemura T,
Maki S, Wieslander J, Takekoshi Y,
Makino H, Kagawa M, Sado Y,
Kashtan CE, Type IV collagen alpha
chain. Normal distribution
and abnormalities in X-linked Alport
syndrome
revealed by monoclonal antibody, Am J
Pathol. 1994; 144(5):986.
Shaw EA, Colville D, Wang YY, Zhang
KW, Dagher H, Fassett R, Guymer R,
Savige J, Characterization of the peripheral
retinopathy in X-linked and autosomal
recessive Alport syndrome,
Nephrol Dial Transplant. 2007; 22(1):104.
Merchant SN, Burgess BJ, Adams JC,
Kashtan CE, Gregory MC, Santi PA,
Colvin R, Collins B, Nadol JB Jr, Temporal
bone histopathology in Alport syndrome,
Laryngoscope. 2004; 114
(9):1609.
Cohen EP, Lemann J Jr, In hereditary
nephritis angiotensin-converting enzyme
inhibition decreases proteinuria and may
slow the rate of progression, Am J Kidney
Dis. 1996;27(2):199.
Callís L, Vila A, Carrera M, Nieto J,
Long-term effects of cyclosporine A in
Alport's syndrome, Kidney Int. 1999;55
(3):1051.
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