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| Year : 2013 | Volume
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| Issue : 2 | Page : 376-378 |
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| Deciphering Alport syndrome |
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Dilip Gude, Sashidhar Chennamsetty, Ratan Jha
Department of Nephrology, Medwin Hospital, Nampally, Hyderabad, AP, India
Click here for correspondence address and email
| Date of Web Publication | 26-Mar-2013 |
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How to cite this article:
Gude D, Chennamsetty S, Jha R. Deciphering Alport syndrome. Saudi J Kidney Dis Transpl 2013;24:376-8 |
To the Editor,
We have read with great interest the article "Alport Syndrome and Thin Basement Membrane Nephropathy: Diseases Arising from Mutations in Type IV Collagen" by Kashton CE [1] , and we would like to report a rare variant of the same.
A 23-year-old male with a history of minimal trauma 2 years ago whose evaluation at that time showed bilateral contracted kidneys now presented with progressively worsening visual acuity and hearing loss. He has a history of consanguinity and family history significant for having chronic kidney disease and hearing loss in the siblings and first cousins. Further work-up revealed that he had bilateral sensorineural hearing loss. Ophthalmic examination revealed that he had posterior and anterior lenticonus (oil drop appearance) and axial myopia in the left eye [Figure 1] and a cataract in the right eye [Figure 2]. There was also evidence of dot-and-fleck retinopathy with bilateral light yellow granulations surrounding the foveal area. Ultrasonography showed shrunken kidneys [Figure 3]. His biochemistry showed urea - 170 mg/dL, serum creatinine - 9.2 mg/dL, Hb - 7 g/dL, calcium - 7 mg/dL, phosphorus - 7.8 mg/dL, and alkaline phosphatase - 110 IU/L; urinalysis showed 10 -12 RBC, protein-1+; and 24-hr urine protein was 1 g. | Figure 2: Slit lamp exam showing both anterior and posterior lenticonus in the left eye.
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Alport's syndrome (AS) sports a variety of abnormalities seen in the glomerulus, eye, and inner ear, and the fundamental defect lies in the alfa-3, alfa-4, or alfa-5 (IV) chains of type IV collagen causing basement membrane impairment. Of the three distinct hereditary patterns that AS follows, X-linked AS (mutation in COL 4 A5 gene) accounts for 80% and is consistently severe in males. [1] Autosomal recessive
AS (mutation in COL 4 A3) is probably the case in our patient, and it usually results from consanguineous marriages. The autosomal dominant form (mutation in either COL 4 A3 or COL A4 genes) is a rarer entity and accounts for the rest. The renal manifestations may commence with asymptomatic persistent microscopic hematuria (not routinely detected unless screened due to the presence of an affected family member) or rarely recurrent episodes of gross hematuria. The glomerular basement membrane traverses various stages from normal to thinning, progressing to thickening, splitting, and degeneration and may surface as asymptomatic urinary abnormalities or more sinister manifestations. Hypercellular mesangium, focal and segmental glomerulosclerosis, chronic tubulointerstitial fibrosis, atrophy, and accumulation of foam cells on renal biopsy are some of the features that AS may feature. [2] AS runs a downhill course of progressive renal insufficiency, ultimately leading to end-stage renal disease (ESRD). AS may contribute 0.3-2.3% of ESRD cases. [3] The characteristic bilateral sensorineural hearing loss may begin in the high frequency range, and progresses over time. The pathognomonic lenticonus (usually anterior, but anterior and posterior in our case) is a regular conical protrusion due to thinning of the lens capsule, and may be complicated by subcapsular cataracts. [4] The dot-and-fleck retinopathy with white to yellow granulations in the retina (seen in our patient) are also specific to AS.
Given its dilapidating manifestations in various organ systems, AS is an entity of considerable morbidity and warrants adequate screening (including family members), vigilance for cues of significance, and astute management accordingly.
 Acknowledgment | |  |
The authors would like to thank their colleagues and the staff of the Nephrology Department.
| References | | |
| 1. | Kashtan CE. Alport Syndrome and Thin Basement Membrane Nephropathy: Diseases Arising from Mutations in Type IV Collagen. Saudi J Kidney Dis Transpl 2003;14:276-89. 
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| 2. | Mahajan SK, Sud S, Sood BR, Patil RK, Prashar N, Prashar BS. Alport syndrome. J Indian Acad clin Med 2003;4:337-9.
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| 3. | Heidet L, Gubler MC. The renal lesions of Alport syndrome. J Am Soc Nephrol 2009;20:1210-5.
[PUBMED] |
| 4. | Savige J, Colville D. Opinion: Ocular features aid the diagnosis of Alport syndrome. Nat Rev Nephrol 2009;5:356-60.
[PUBMED] |
Correspondence Address:
Dilip Gude
Department of Nephrology, Medwin Hospital, Nampally, Hyderabad, AP
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/1319-2442.109611
[Figure 1], [Figure 2], [Figure 3] |
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