Macular lesions in Alport's disease.

In three male patients with Alport's disease, two of them successfully treated by kidney transplantation, ophthalmoscopy revealed bilaterally densely packed whitish-yellow lesions around, and to some extent in, the macular area. These spots, superficially located in the retina, have not been previosly desribed in Alport's disease.

Renal cysts in premature children: occurrence in a family with polycystic kidney disease.

Discrete but typical renal lesions, probably representing the first stage of familial adult-type polycystic kidney disease, were found in two premature still-born daughters of a woman whose family had many cases of this autosomal dominant disease. Apparently, enough cysts were present to form polycystic kidneys of adult size solely by cyst dilation, without additional cyst formation.

[Rheumatic disease as initial symptom of HIV infection]. / Een reumatisch ziektebeeld als eerste uiting van een HIV-infectie.

A 47-year old man presented with general malaise, pain in several joints and muscles, lymphadenopathy, livedo reticularis, an elevated sedimentation rate and mild pancytopenia. A positive ANF, anticardiolipin antibodies and circulating immune complexes raised suspicion of an autoimmune disease. A perivascular infiltrate in muscle and fascia was found, but a specific diagnosis could not be made. The patient appeared to be infected with the human immunodeficiency virus (HIV) type I, with the cellular immunity already decreased. During treatment with zidovudine the symptoms and signs diminished, suggesting a causal relation between the HIV infection and this clinical presentation. The rheumatic manifestations and autoimmune phenomena with which HIV infection can be associated are discussed.

[Intracranial aneurysms and autosomal dominant polycystic kidney disease]. / Intracraniële aneurysmata en autosomaal dominant erfelijke cystennieren.

Three women aged 55, 47 and 40 years with polycystic kidney disease had several relatives with cystic kidneys, some of whom had died or been crippled after (presumably) a subarachnoid haemorrhage. Two of these patients had a haemorrhage from an aneurysm of a cerebral artery; after clipping of the vessel they recovered without sequelae. The third patient had magnetic resonance (MR) angiography performed, which revealed no aneurysm. The prevalence of intracranial, saccular aneurysms in patients with autosomal dominant polycystic kidney disease (ADPKD) is about 10%. ADPKD patients with questions about the risk of a subarachnoid haemorrhage should be informed about the need of blood pressure control and the possibility of screening by MR angiography. Diagnosed aneurysms can be treated neurosurgically or endovascularly. Since aneurysms develop in the course of life, screening as a rule is only necessary from the age of 20 years, and its repetition every 5 years should be considered.

A comparative study of the effects of nitrendipine and enalapril in essential hypertension.

In this study, we compared the effects of nitrendipine (20-40 mg daily) and enalapril (20-40 mg daily) in 44 patients with mild to moderate essential hypertension. After a 4-week placebo period, the patients entered a double-blind, crossover study of 16 weeks, divided by a second 4-week placebo period. Sitting and standing blood pressures (standard mercurymeter) were measured every 2 weeks. Ten patients dropped out, so 34 patients were evaluable. Two patients dropped out because of surgery, one patient was withdrawn because of accelerating hypertension, and seven patients discontinued because of side effects (two on placebo, four on enalapril, and one on nitrendipine). Sitting blood pressures decreased from 172 +/- 3/107 +/- 1 to 159 +/- 3/94 +/- 1 mm Hg on nitrendipine (p less than 0.001) and to 157 +/- 4/96 +/- 2 mm Hg on enalapril (p less than 0.001). The heart rate did not change. Both compounds had no significant effect on serum lipids and on renal function. With regard to side effects, flushing occurred in 10 patients on nitrendipine and in 3 on enalapril (p less than 0.05); cough was noted in 3 patients on enalapril. When using a diastolic pressure less than 95 mm Hg as a response, 72% responded on nitrendipine and 64% on enalapril (n.s.). In conclusion, nitrendipine and enalapril, given as monotherapy, were equally effective antihypertensive agents in this group of patients with uncomplicated, moderate, essential hypertension. The use of either of the tested agents seems to be more limited by its specific side effects than the lack of antihypertensive efficacy.

Bartter's syndrome: an autosomal recessive disorder? Study of four patients in one generation of the same pedigree and their relatives.

The diagnosis of Bartter's syndrome was established in four patients of one generation of the same pedigree. The proband affected with Bartter's syndrome appeared to have a brother and two first cousins, who are siblings, with the same condition. All four patients had hypokalemia, hyperreninemia, normal blood pressure and a diminished pressor sensitivity to angiotensin II. In contrast to most cases of Bartter's syndrome, the urinary excretion of prostaglandin (PG) E2 was not elevated. The parents and the siblings of the patients were studied in order to detect asymptomatic carriers of the disorder. Abnormal serum potassium levels, plasma renin activities, urinary PG excretions and pressor responses to angiotensin infusion were not found in these relatives. Although consanguinity could not be established between the parents of any of the couples, the distribution of the disorder in the two related families confirms the hypothesis that genetic factors play an important role in Bartter's syndrome and that it is inherited as an autosomal recessive trait.

Genetic counselling for adult polycystic kidney disease. Ultrasound a useful tool in pre-symptomatic diagnosis?

A study was performed to assess the reliability and sensitivity of ultrasound for the screening of asymptomatic children of patients with known adult polycystic kidney disease (APKD) and to compare this technique with the IVP and conventional laboratory techniques. Ultrasound appears to be at least as sensitive as IVP for identifying carriers of the gene for polycystic kidney disease. The identification of about 50% of a group of 21 asymptomatic individuals-at-risk in the 21-30-year age group as gene carriers, both with ultrasound and IVP, is promising for the early detection of this disease and therefore for genetic counselling in the future. This is the first step toward the construction of an age-specific detection curve for gene carriers, which is necessary in order to be able to calculate the probability that symptomatic subjects-at-risk carry the APKD gene.

Electro-rentinal abnormalities in heterozygotes of renal-retinal dysplasia.

The relatives of two patients with medullary cystic disease associated with retinitis pigmentosa were studied. A new case was found in one of these families, and consanguinity of the parents was established in another. Conventional fundoscopic examination of relatives without renal disease did not show retinal abnormalities, but electro-ophthalmologic investigation demonstrated retinal dysfunction in three relatives, including two of the four parents who may be considered obligatory heterozygotes under the assumption of autosomal recessive inheritance of this syndrome. Less severe electro-ophthalmological abnormalities were observed in the other two parents. It is considered highly probable that all three patients are homozygous for a mutant gene causing both the renal and the retinal abnormalities. The results of this study support the view that medullary cystic disease associated with retinitis pigmentosa is transmitted as an autosomal recessive trait, in contrast to the dominant form, which is reported not to be associated with eye abnormalities. With respect to genetic couseling and donation of kidneys by relatives, it is important to establish the mode of inheritance of cystic medullary disease in a given family. Electro-ophthalmologic examination should therefore be included in the examination of families in which medullary cystic disease occurs.

Genetic counselling in hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) with nephropathy.

Hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) is an autosomal dominant condition characterised by nail dysplasia, patellar hypoplasia or aplasia, and nephropathy. The risk for HOOD patients to have a child with HOOD who will develop renal failure cannot easily be deduced from published pedigrees. We have studied a large family with 30 patients with HOOD and have analysed 34 kindreds with HOOD nephropathy from published reports, comprising 213 patients. For a patient with HOOD from a family in which HOOD nephropathy occurs, the risk of having a child with HOOD nephropathy is about 1:4; the risk of having a child in whom renal failure will develop is about 1:10.

Familial occurrence of the haemolytic uraemic syndrome.

A family is described in which the haemolytic uraemic syndrome (HUS) occurred in two generations. Both juvenile and adult onset of this syndrome were observed in this family. Those affected were all women, three developed HUS in the postpartum period, one towards the end of pregnancy and one as a five-year old child. Because five cases were observed over a period of 16 years, exposure to the same infectious agent is highly unlikely. Although the transmission of a "dormant" virus cannot be excluded, the occurrence of HUS in two generations of one and the same family seems compatible with the hypothesis that susceptibility to the disease is transmitted as an autosomal dominant characteristic. This observation suggests a genetic influence on the development of HUS, possibly in conjunction with other factors, such as infectious agents, pregnancy and/or delivery.