Recurrent haematuria in childhood. A five-year follow-up.

Johnston, Carolyn; Shuler, Stanton E.

doi:10.1136/adc.44.236.483

Cited by 16 publications

(2 citation statements)

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“…A number of previous studies have described a frequency of familial haematuria equal to, or greater than, that found in our population (Ayoub and Vernier, 1965;McConville et al, 1966;Johnston and Shuler, 1969;Cotton et al, 1975). In contrast, other workers have found a familial aggregation to be rare among children with idiopathic haematuria (Arneil et al, 1969;Glasgow et al, 1970).…”

Section: Discussionsupporting

confidence: 53%

“…Often, such examinations fail to reveal any cause for the haematuria. Many investigators (Baehr, 1926;Livaditis and Ericsson, 1962;Travis et al, 1962;Arneil et al, 1969;Johnston and Shuler, 1969;Glasgow et al, 1970) have concluded that the majority of such patients do not suffer from renal disease and have conferred upon them such diagnoses as 'idiopathic', 'benign', or 'essential' haematuria. In 1965, Ayoub and Vernier first reported a familial incidence of benign haematuria, a finding which has since been substantiated by others (McConville et al, 1966;Marks and Drummond, 1969;Rogers et al, 1973;Cotton et al, 1975).…”

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confidence: 99%

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Benign familial haematuria in children from the Jewish communities of Israel: clinical and genetic studies.

Eisenstein¹,

Stark²,

Goodman³

1979

Journal of Medical Genetics

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SUMMARY Over 7 years, 130 children were referred for prolonged isolated haematuria of unknown cause. In 34 instances, haematuria was also found in one or more family members. In 23 of these families (18 % of all referrals for isolated haematuria), investigation and follow-up, for periods of 5 to 10 years, of the index cases and of 56 haematuric relatives showed no evidence of renal disease and no other pathological findings. These subjects were diagnosed as having benign familial haematuria.The gene for benign familial haematuria is apparently transmitted as an autosomal dominant with reduced penetrance and variable expressivity. In Israel, the disorder seems to be more frequent among Jews of non-Ashkenazi descent than among those of European ancestry (Ashkenazim).Persistent or recurrent microscopical haematuria in otherwise healthy children represents a rather common clinical problem necessitating diagnostic procedures to identify or rule out renal disease, urinary tract pathology, or a haemorrhagic diathesis. Often, such examinations fail to reveal any cause for the haematuria. Many investigators (Baehr, 1926;Livaditis and Ericsson, 1962;Travis et al., 1962;Arneil et al., 1969;Johnston and Shuler, 1969;Glasgow et al., 1970) have concluded that the majority of such patients do not suffer from renal disease and have conferred upon them such diagnoses as 'idiopathic', 'benign', or 'essential' haematuria. In 1965, Ayoub and Vernier first reported a familial incidence of benign haematuria, a finding which has since been substantiated by others (McConville et al., 1966;Marks and Drummond, 1969;Rogers et al., 1973;Cotton et al., 1975). Since familial aggregation appeared to be a surprisingly common occurrence among children referred to our clinic because of persistent or recurrent haematuria, we decided to investigate all such cases seen over a 7-year period. Of these patients, 23 are believed to have benign familial haematuria (BFH). This paper describes the features on which the diagnosis was based and summarises clinical and genetic findings in this group of subjects.Received for publication 23 December 1978 Subjects and methods During the period 1966 to 1972, 130 children were seen in the Paediatric Nephrology Clinic of the Beilinson Medical Center with isolated, asymptomatic, persistent, or recurrent haematuria for which no cause could be found. This was defined as the finding of more than 10 erythrocytes per highpower field in 80 % or more of repeated urine examinations performed over a period of at least one year, and Addis counts showing more than 1 5 million erythrocytes per 12 h (our findings in healthy children are less than 0 5 million). In such cases urine analyses were performed on members of the immediate family (sibs and parents) and a family history was taken relating to renal disease, urinary findings, hypertension, deafness, and ocular anomalies. In 34 instances, haematuria was discovered in one or more members of the patient's family as a result of this search.The following investigations were ...

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Section: Discussionsupporting

confidence: 53%

mentioning

confidence: 99%

Benign familial haematuria in children from the Jewish communities of Israel: clinical and genetic studies.

Eisenstein¹,

Stark²,

Goodman³

1979

Journal of Medical Genetics

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Establishing the Diagnosis of Benign Familial Hematuria

Blumenthal¹

1988

JAMA

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Patients with microscopic hematuria are generally referred for urologic investigation. We describe 30 patients with normal renal function referred to our clinic during the years 1970 through 1987 for evaluation of hematuria, usually microscopic, in whom prior urologic and radiological studies had failed to determine the cause of bleeding. Urinary sediment from the patients and first-degree relatives revealed hemoglobin and red blood cell casts; the inheritance pattern was consistent with autosomal dominant transmission. During follow-up for up to 18 years, renal function remained normal, thus confirming the diagnosis of benign familial hematuria. Immunoglobulin A nephropathy and Alport's syndrome were less common than benign familial hematuria and could be differentiated from it by history, physical examination, and routine laboratory testing. Since benign familial hematuria is a common disorder in adults with hematuria and normal renal function, urinary sediment from patients and family members should be examined before extensive urologic and radiological procedures are performed.

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Rezidivierende H�maturie bei Kindern

et al. 1973

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Renal biopsy was performed in 33 children with recurrent haematuria but with no other symptoms of renal disease or urinary-tract lesions. Glomerulonephritis was found in 31 of 33 patients. Light and electron microscopy revealed two groups of pathologic lesions: focal glomerulonephritis in 6 and diffuse postacute proliferative glomerulonephritis in 25 children, The histopathologic changes of the glomerulus were minimal or slight. Only the mesangium was affected by hypereellularity and/or thickening of various degrees. Severe lesions were not found. There was no evidence of reduced renal function or proteinuria. The study indicates that recurrent haematuria is associated with several types of glomerulonephritis. In our eases the prognosis seems to be good. Establishment of a correct diagnosis requires morphological classification by renal biopsy.

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Recurrent haematuria in childhood. A five-year follow-up.

Cited by 16 publications

References 9 publications

Benign familial haematuria in children from the Jewish communities of Israel: clinical and genetic studies.

Benign familial haematuria in children from the Jewish communities of Israel: clinical and genetic studies.

Establishing the Diagnosis of Benign Familial Hematuria

Rezidivierende H�maturie bei Kindern

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