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Časopis Clinical urology – Článok Urological aspects of tuberous sclerosis complex

Clinical urology

Postgraduate scientific medical journal. Magazine Slovak Association of Urology.
Period 3x per year
1336-7579
The journal is indexed in the Slovak National Bibliography, Bibliographiia Medica Slovaca (BMS) and listed to citation database CiBaMed. All articles are reviewed. The publisher does not bear any responsibility for data and opinions of particular authors of the articles or advertisements. The articles on grey pages are company promotions or non reviewed information, an author is responsible for the content. Any reproduction of the content is allowed only with direct consent of the editorial office.
Predplatné
Clinical urology
Clinical urology
Postgraduate scientific medical journal. Magazine Slovak Association of Urology.
Period 3x per year
Predplatné
Téma: 

Urological aspects of tuberous sclerosis complex

Ján Breza ml., Barbora Novotná

Introduction: Tuberous sclerosis complex is an autosomal dominant hereditary disease that is the result of mutations
in two tumour suppressor genes and is characterised by the formation of benign tumours, hamartomas, in several organ
systems. In about 80 % of cases, the mutations are acquired, the cause of mutation is unknown. Autosomal dominant
gene mutations cause about 20 % of cases of tuberous sclerosis complex, and affliction of more family members
is found. Most commonly, in patients with tuberous sclerosis, neurological and psychiatric symptoms are present. Renal
hamartomas are called angiomyolipomas. After neurological and skin changes, renal angiomyolipomas are ranked
the third in the incidence rate in patients with tuberous sclerosis.
Material and methods: The authors analyse their own clinical experience with the diagnostics and treatment of patients
with the tuberous sclerosis complex. The study includes 12 adult patients (9 women and 3 males aged 17 to 42 years).
Women predominated (75 %) over male patients 25 %).
All patients were polysymptomatic; symptomatology was highly complex and polymorphic. In every patient, the signs
of the simultaneous affliction of at least two organ systems were found. There was no common symptom to all patients,
and no symptom was pathognomonic for the tuberous sclerosis complex. In adult patients, the affliction of the kidneys
by angiomyolipomas was the predominant form of the tuberous sclerosis complex. In most of them, simultaneous signs
of affected skin and nails were observed.
Results: Renal angiomyolipomas were demonstrated in all adult patients with tuberous sclerosis complex. In all cases,
multiple tumours were presented, in 10 patients angiomyolipomas occurred on both sides. All patients complained of
intermittent blunt pain in the lumbar region. In three women, angiomyolipomas manifested dramatically through socalled
Wunderlich syndrome, haemorrhagic shock due to massive retroperitoneal bleeding from the large ruptured angiomyolipoma
of the kidney.
All 9 females underwent surgical treatment of renal angiomyolipomas. In three of them, the kidneys were removed due to
ruptured angiomyolipomas. In one woman, large angiomyolipoma of the kidney (14 cm in diameter) was removed preventively.
As the treatment of renal angiomyolipomas must maintain as much functional parenchyma as possible, in 5 patient
preference was given to nephron sparing surgery in which only the pathological focus is removed from the kidney, but the kidney
was retained. Moreover, two women underwent embolisation of the growing angiomyolipoma with unequivocal results.
The alternative treatment by administration of an inhibitor of the mTOR signalling pathway was considered in 5 patients.
Conclusion: In clinical practice, urologists only rarely meet patients suffering from the tuberous sclerosis complex.
Therefore, experience with the management of this disease is insufficient in affected patients. Diagnostics of tuberous
sclerosis complex is all the more demanding because the patients are usually polysymptomatic, subjective but also objective
symptoms are not specific to the complex of tuberous sclerosis but can also be the signs of other diseases. In all
patients, the signs of simultaneous involvement of at least two organ systems were found. There was not a symptom
common to all patients, and no a symptom was pathognomonic for the tuberous sclerosis complex.
Patients with kidney disease affected by tuberous sclerosis complex should be monitored on a long-term and systematic
basis, in a timely and robust manner, while at the same time complications resulting from kidney angiomyolipomas
must be resolved sparingly.
The complex of tuberous sclerosis is a disease that cannot be prevented. However, based on knowledge and experience,
it is possible to modify the course of the disease, improve the quality of life and extend the survival of some patients.

tuberous sclerosis complex, gene mutations, epilepsy, mental impairment, angiomyolipomas, hamartomas
Klin urol 2017; 13 (3): 125 – 130

Ročník 2017  Témy časopisu Clinical urology 3 / 2017

Viera Tóthová, Pavol Dubinský, Ján Kliment, Ivan Režňák, Eva Takácsová, Iveta Vinarčíková-Mikšíková
Ján Kliment, Vladimír Malec, Jozef Mardiak, Michal Mego
Ján Breza ml., Barbora Novotná
Chrissie T. Wøien, Thomas M. Andersen, Peter Zvara
Vincent Nagy, Miroslav Iláš, Jaroslav Beck

Case study

Vladimír Bartoš, Dušan Pokorný, Juraj Mikuláš, Barbora Škripeková
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Nie sú dostupné žiadne voľne dostupné články
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Period 3x per year
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The journal is indexed in the Slovak National Bibliography, Bibliographiia Medica Slovaca (BMS) and listed to citation database CiBaMed. All articles are reviewed. The publisher does not bear any responsibility for data and opinions of particular authors of the articles or advertisements. The articles on grey pages are company promotions or non reviewed information, an author is responsible for the content. Any reproduction of the content is allowed only with direct consent of the editorial office.
Predplatné
Clinical urology
Clinical urology
Postgraduate scientific medical journal. Magazine Slovak Association of Urology.
Period 3x per year
Predplatné