Nephrol Dial Transplant (1999) 14: 2763-2765
© 1999 European Renal Association-European Dialysis and Transplant Association
Nephroquiz for the Beginner
No `Stinkefinger' and renal failure—do you see a link?
(Section Editor: T.J. Rabelink)
Department of Internal Medicine, Ruperto Carola University Heidelberg, Heidelberg, Germany
During the last World Soccer Championship, Stefan Effenberg, a member of the German team, was sent home because he had insulted the fans by raising an isolated middlefinger which is an obscene and insulting gesture with sexual implications. The following case shows that on the other hand a close watch for the middlefinger may be of help to the nephrologist and enable him occasionally to arrive at the correct diagnosis.
A patient born in 1961 was admitted whose mother had no renal disease and whose father was unknown. He had persistent proteinuria and intermittent microhaematuria from age 15 years onward. This had prompted urological examination which showed upon intravenous urography deformed calyces, deep scars (more pronounced of the left than the right kidney) and absence of vesicoureteral reflux by cystoscopy. At 30 years of age he was known to be hypertensive and transiently took beta blockers. At 35 years of age his blood pressure had risen to values of permanently above 150/100 mmHg. At 37 years of age he presented with a serum-creatinine of 1.87 mg/dl and proteinuria of 5 g/l. Inspection showed malformation of the hands with bilateral absence of the middle finger (Figure 1
). The feet were also malformed (Figure 2). As a potentially incidental finding, he had an accessory mammilla.
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Upon urological examination at 15 years of age, the patient had been diagnosed as having urotuberculosis. He had received tuberculostatic treatment for 18 months, although bacteriological analysis had been negative throughout and there was no sign of epidydimal or bladder tuberculosis.
The patient was presented to the renal outpatient clinic for further evaluation of progressive renal failure.
What is your diagnosis?
Answer to question on preceeding page
The diagnosis is acrorenal syndrome. This was first described by Dieker and Opitz [1] as the association of acral and renal malformations. The latter are varied and may include unilateral renal agenesis, duplex formation, ureteral hypoplasia, trigonal deformities or bladder obstruction and vesicoureteral reflux. The condition is thought to be due to an autosomal mutation. There had been a suspicion that high parental age may play a role, but we could not confirm this notion [2]. The renal scarring raised the question of Ask Upmark malformation or reflux nephropathy, but vesicoureteral reflux had not been present at X-ray of the bladder. Renal biopsy in one of our patients (Figure 3) showed non-specific glomerulosclerosis. We found widening of the mesangial axes, focal segmental glomerulosclerosis and renal interstitial fibrosis with occasional foam cells. The latter is a characteristic feature according to the literature. Immune histology is not informative. The condition may progress to end-stage renal failure and a previous case of ours [4] has meanwhile successfully undergone renal transplantation.
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The skeletal abnormalities do not only concern the extremities, but may also include arched palate, pectus excavatum, skoliosis and occasionally congenital hip dislocation. The cause of this skeletal malformations is unknown. It is a tantalizing thought, however, that a mouse strain with skeletal abnormalities of the extremities (oligosyndactyly) due to a radiation-induced mutation on chromosome 8 is associated with a reduction in nephron number and increased susceptibility to progressive renal damage. Whether this constitutes more than a superficial analogy remains to be seen.
There are other skeletal malformations which are associated with renal disease and most also with renal failure (Table 1). It is therefore useful for the nephrologist to look not only at urine, kidneys and laboratory findings, but also at the patient's skeleton.
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Acknowledgments
We thank Prof. Waldherr (Heidelberg) for providing renal histology (Figure 3
).
References
- Dieker H, Opitz JM. Associated acral and renal malformation. Birth Defects1969; 5:68–77
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Curran AS, Curran JP. Associated acral and renal malformations. A new syndrome? Pediatrics1972; 49: 716–725
[Abstract/Free Full Text] - Miltenyi M, Balgol L, Schmidt K, Detre Z. A new variant of the acrorenal syndrome. Associated with bilateral oligomeganephronic hypoplasia. Eur J Pediatrics1984; 142: 40–43[Medline]
- Zeier M, Tariverdian G, Waldherr R, Andrassy K, Ritz E. Acrorenal syndrome in an adult—presentation with proteinuria, hypertension and glomerular lesions. Am J Kidney Dis1989; 14: 221–224[Web of Science][Medline]
- Oxford Textbook Clinical Nephrology, vol. 3. Oxford University Press, Oxford: 1992: 2036
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