Hypertension and nephrology

[Symptomes and genetics of nephronophthisis]

TORY Kálmán, VÁRKONYI Ildikó, BERNÁTH Mária, RÉMI Salomon, SOPHIE Saunier, MARIE-CLAIRE Gubler, CORINNE Antignac, TULASSAY Tivadar, REUSZ György

FEBRUARY 20, 2010

Hypertension and nephrology - 2010;14(01)

[Nephronophthisis is an autosomal recessive, chronic tubulointerstitial nephropathy, responsible for 6-10% of childhood chronic renal failure cases. Its first symptoms, polyuria-polydipsia, anaemia and failure to thrive precede the development of end-stage renal disease by years. Increased echogenicity with loss of corticomedullary differentiation are the key findings on ultrasound, the lack of cysts does not rule out the diagnosis. Histologically, it is characterized by interstitial fibrosis and irregularities of the tubular basal membrane. Genetically, it is highly heterogeneous. Ten nephronophthisis genes have already been identified in 60% of the patients. The encoded proteins - similarly to other proteins mutated in cystic kidney diseases - are localized to primary cilium-basal body-centrosomal complex.]

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[Atherosclerosis is a phenomenon of natural aging and as part of it erectile dysfunction (ED) occurs. ED is further aggraveted by smoking, diabetes, atherogen dyslipidemia, obesity, systolic hypertension and vascular disesases (carotid, coronary and peripheral). The average incidence of ED is 19.2% but depending on age (between 30 and 80 years) the relative frequency is fairly different (from 2.3% to 53.5%). Appearence of ED might be the first warning sign of cardiovascular disease. The basis of the treatment of hypertensive males suffering from ED might be the cessation of smoking and quitting alcohol consumption. Optimalization of body weight includes low dietary fat and carbohydrate consumption. Concerning the antihypertensive treatment of males suffering from ED centrally acting agents, diuretics (except indapamide) and beta blockers (except carvedilol and nebivolol) should be omitted. Because of the neutral effect of calcium channel blockers and ACE inhibitors they can be safely administered. There is increasing evidence about ARBs that they have beneficial effect on erectile function and libido, too. If, testosterone production decreases hormone substitution - controlled by an urologist - can be recommended. Oral phosphodiesterase inhibitors (PDE5) can be safely administered even in hypertension. The incidence of sexual dysfunction (SD) among women between ages 40 and 80 is 47%. The most frequent cause in the background of decreased sexual desire among women are psychological, emotional and hormonal reasons or side effect of medication. Several studies proved the association of hypertension, high plasma cholesterol levels, smoking, vascular diseases and sexual dysfunction among women. Disturbance of local blood supply (clitoral, vaginal) is an early prognostic sign, too, like in males. Estrogen hormon replacement might alleviate these symptoms. In recent years sildenafil proved to be effective in several studies and ARBs improve libido, as well.]

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