BENIGN FAMILIAL HEMATURIA Melvin I. Marks and Keith N.

Drummond Pediatrics 1969;44;590

The online version of this article, along with updated information and services, is located on the World Wide Web at:
http://pediatrics.aappublications.org/content/44/4/590

PEDIATRICS is the official journal of the American Academy of Pediatrics. A monthly publication, it has been published continuously since 1948. PEDIATRICS is owned, published, and trademarked by the American Academy of Pediatrics, 141 Northwest Point Boulevard, Elk Grove Village, Illinois, 60007. Copyright 1969 by the American Academy of Pediatrics. All rights reserved. Print ISSN: 0031-4005. Online ISSN: 1098-4275.

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BENIGN
Melvin The Renal I. Marks,
Labcsrator!,r,

FAMILIAL
and Keith N.

HEMATURIA Drummond,
Hospital

M.D.,
McGill

C.M.,

M.D.,

CM.,

F.R.C.P.
Institute,

(C)
Mont real

University-Montreal

Childrens

Research

ABSTRACT. tuna served family other urinalyses; itary renal function of in family none 6 history

Asymptomatic months seven of of members of the were or general disease to renal 8 eight

persistent years siblings. disease examined other known detected. or duration

renal was There deafness, showed forms Abnormalities

hemaobno and normal was

revealed no abnormalities tial tissue. This familial condition

sistent microscopic hematuria

of glomeruhi is characterized
with

or interstiby pergross

episodic

of heredof

physical health and development were not detected. Renal biopsies were performed in the two patients with the longest history of hematuria (7 and 8 years). Light and immunofluorescence microscopic study of renal tissue

renal

hematuria and a favorable though the pathogenesis process does not appear scopic examination of the
in hematuria Pediatrics,
RENAL BIOPSY.

long-term prognosis. Alis unclear, an immune to be involved. Microurine of family members

obvious 1969,
FAMILIAL

without

an 44:590,
DISEASE,

etiology
HEMATURIA,

is

warHE-

ranted.
REDITARY
RENAL

HEMATURIA,

A
orders, or

LTHOUGH

hematuria

is a common

manirenal be disof less

treated ever, these

for hematuria infections.

urinary The

tract antedated children

infections; and were developed. blood

howfollowed of averPhysipressure, an

festation it may, serious disorder evidence present disorder

of active in some

or serious instances,

import. Recently was described hematuria of progressive report describes in which seven

a familial renal in which recurrent is present without The this clinirenal renal The renal disease.1 a family with of eight

age intelligence cal examinations, were right loss. siblings excess

and well including

persistent

unremarkable except for a perforated eardrum in Case 6 associated with 20 revealed of 50 red decibel conductive of each microscopic blood cells of the hearing affected The urinalyses

ipsilateral

siblings

showed persistent cal or laboratory function. microscopic biopsy tissue mother passed usually medical had dark unrelated advice CASE Light

hematuria without evidence of impaired and immunofluorescence

hematuria per high-power

in

studies were done on from two of the patients. noticed urine on that numerous and hospital. her thus

field in centrifuged occasions; granular casts were seen was no

specimens on numerous and red blood cell children except urine urine were Case or protein normal. creaticreatitested. pyuria, aminoaciduria, concentra-

in all

children occasions, sought

7. There
bacteruria. determinations, tion, The nine arid blood were

Twenty-four-hour maximum acidifying capacity urea nitrogen normal in all, in the pyelograms, B1 globulin and ophthalmologic Five audiograms; of

to illness, at our

PRESENTATIONS information this family. there was renal bleeding patients. unusual 2
accepted MT-1579

and serum as were the four patients

Table I presents fected members of asymptomatic streptococcal

sure to

on the afThey were no history expoor unbeen

April Medical

nine

clearances

and infection, tuberculosis, of the any Cases

of

Intravenous ethrograms, studies, were

tients

voiding cystourlevels, coagulation examinations the Case seven 4 had hearing as prepaa

trauma, disorder, We 4
for from

unremarkable. had normal

edema able to

in any detect

were had
publication the

environmental and

circumstances. ( Received January Aided by Term

PRESENT Medical ADDRESS Center, FOR

unilateral loss, and

17, Research 1969.)

40 decibel neurosensory Case 6 a conductive defect

24; Grant

Council

of

Canada.

ADDRESS:
Denver,

( M.I.M.)
Colorado.

Department
Renal

of Pediatric
Laboratory,

Infectious
Montreal

Diseases,
Childrens Vol.

University
Hospital Research

of

Colorado
Institute,

2300

Tupper

REPRINTS: ( K.N.D.) Street, Montreal, P.Q.,

Canada.
PEDIATRICS,

44,

No.

4, October

1969

590

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ARTICLES
viously mentioned. In addition, all patients
AFFECTED TABLE SIBLiNGS I IN FAMILY

591

had white serum

normal blood rate, protein

hemoglobin cell count, antistreptolysin and calcium,

concentration, erythrocyte sedi0 titer, and total serum uric

Case Vumber

mentation electrolytes, acid.

Duration Age (yr) Sex Ifematuria

of
Biopsy Findings

electrophoresis, phosphorus,

(documented by urinal yses)

7yr

RENAL
Percutaneous Cases longest
tissue

BIOPSIES
biopsies were done in
3
4

11 10
9

M F F F I F F

7 yr 8 yr yr 5yr 6tto 6mo

Normal Normal

renal

2 and 3, since these patients had the known duration of hematuria. The
was fixed in 2% glutaraldehyde, pro-

S 6
4 3

cessed stained ( HPS

for

routine

light

microscopy, phioxine ( PAS

and saffron ), and pattern ever, of inheritance in our family and was in suggested, two howfrozen
dry

),

with hematoxylin periodic acid-Schiff acid silver the tissue processed

periodic Part of in ice and

methenamine was immediately to for

( PASM).

of McCon-

isopentane

precooled

70#{176}C in

immunofluorescence

villes families, neither parent was affected. Six of the seven biopsies in McConvilles
study

microscopy tissue was lin G (IgG),

as described previously.2 This stained for human immunoglobuB1 globulin (B1), albumin, were 20 microsfor

were showed

normal moderate

by light

microscopy, and

and en-

one

proliferation

and fibrin. In to 25 glomeruli

copy and 8 to

each biopsy there available for light

10 glomeruli

available

of the mesangial cells of most of the glomeruli. Our patients biopsies showed no abnormality by light or immunofluorescence microscopy, suggesting that
largement immune

immunofluorescence
were no

microscopy. seen and fibrin in the there was 1 and tissue, or

There glomeruli no for 2). gb-

mechanisms and
benign for the

are
nature

not

operative further
of this disor-

in evi-

abnormalities or interstitial

the
dence

pathogenesis

providing

or

interstitial albumin,

merular
IC,

fluorescence

IgC,

( Fig.
HISTORY

der. Ayoub and Vernier3 changes or no abnormalities

of five patients with A variety hematuria.

found nonspecific in the biopsies suggestive members

renal lesions

histories family
of These

of were
have

FAMILY
The no family is of consanguinity,

familial ancestry with disease, mother 4 pregof the at manot been recurrent studied.

hematuria;
described

Scottish history of

renal The during 3, seven

in patients

with
changes

nonfamilial
include

or hearing or visual defects. had a urinary tract infection nancies. As shown were has a maternal had normal in Figure affected; a normal The aunt, eight siblings age 11 months, the ternal ternal time of this uncle, cousins

the youngest, urinalysis parents, and two

report.

a pa-

urinalyses.

DISCUSSION
This is the nign familial cally described munofluorescence In 8 of the
IsfcConville, et

second hematuria and

report has

in which bebeen specifi-

the first in which imstudies have been done. 10 families described by

a!.,

Fic.

1.

Two stii.

normal original

glomeruli nl(Igniflcdtion,

from

Case y :300.

2, PAS

an

atitosomal

dominant

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592

FA\IILIAL

HEMATURIA
more serious prognosis.

especially

in

affaas
a

fected milial suggested prolonged four sence damage opsied.

extending necessary the

males. hematuria
l))T

The
the

prognosis in benign appears to be excellent,

course observed over

period

of

from

5 to

8 years

in abbibe
of

of our patients with the of any detectable renal in the

over to provide

complete parenchymal who were

will

two

patients prolonged

Although

observation
decades assessment

several a

final

seriousness

of this that other

condition,

the

present seprenal favor-

Ftc.. lgG. both

2. Glomerulus from Case 3 stained for human AU glomeruli examined were negative for IgG and B globulin. Original magnification,

data suggest arable from disease able.

this is a distinct entity forms of hereditary the prognosis is less

in which

x
focal or
several incml)rane of

300.

SPECULATION or focal segmental mesangial proliferation, A wide variety of forms of renal disease
a number of these

familial is now

or hereditary recognized.
extrarenal

In ab-

glomerulitis.46 deposits have

these patients.7

Electron dense been described in The long-term

established;

disorders,

significance prognosis
how-

normalities ( involving, for example, skin, subcutaneous tissue, skeleton,

tory apparatus

the eyes, or audidepending in with is

of these
in such

lesions
instances

and
is

the
not

may

be

present,

on or
the

the

specific

hereditary kidney of in some

in the

nephropathv damage insufficiency of hereditary this outcome

male. in the

ever, persistent

it is generally hematuria

felt with

that focal

recurrent glomerulitis hematuria or the other finding

question.

Progressive development course in most

renal forms instances

is a benign condition. The onset of asymptomatic early in abnormal life without laboratory proteinuria studies and

the

usual
likely

nephropathy;
is less

female

than

The nephropathy

present

report characterized

describes with renal siblings were

a familial epafintervening hematuria of both renal damage

of similar findings in other should suggest a diagnosis

ial hernaturia. It is important

family members of benign familto exclude, in-

by recurrent

isodes of persistent fecting No evidence

gross hematuria microscopic of eight of

sofar itary

as is possible, nephritis with

the condition of hereddeafness, which has a

seven

sexes.

progressive children tendency

was seen, and the health. A familial cells leaking from basement membranes

all in good to red blood

gbomerular capillary appears to be the sole

Eb

abnormality. this may nism by

stimuli

Studies with families such as elucidate the unexplained mechawhich a variety of nonspecific
may

lead

to

exacerl)ationS
different

of

gross
forms

I iiIii#{225}
FIG.

hematuria of renal

in patients vith gomerular disease.

SUMMARY
A family is described eight siblings showed over a period in which persistent seven heniaturia Renal of

3.

Family

pedigree. cross-hatched

Affected areas;

members NT-not tested.

indi-

cated

by

of 6 months

to 8 years.

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ARTICLES biopsies maturia were orescence evaluation paired Benign distinct of

less

593
current 217, 4. Ferris, T. hematuria. 1965. F., Gorden, New D., Eng. P., Kashgarian, M., and Amer.

from two of the patients with for 7 and 8 years, respectively, normal by light and immunoflumicroscopy. revealed renal familial entity function separable renal disease prognosis. Complete no evidence in any of the appears from other which

he-

J.

Dis.

Child.,

109:

Epstein,
nephritis. 5. West, C.

F. H. : Recurrent
McAdams, glomerulonephritis A.

hematuria

and

laboratory of impatients. to be forms have a a

J. Med.,

276:770,
in children.

focal 1967.

J., and Northway,

J.

J. D.
6.

: Focal

hematuria

Pediat.,

73:184,

1968.

hereditable
favorable

Gervais, M., and Drummond, K. N. : Chronic benign recurrent hematuria in children. ( Abst.) Canadian Society of Nephrology, Second Annual Meeting, Vancouver, B.C., p. 7, January
1969.

REFERENCES
1. McConville,

7.

2.

J. M., West, C. D., and McAdams, A. J.: Familial and nonfamilial benign hematuna. J. Pediat., 69:207, 1966. Dnuxnmond, K. N., Michael, A. F., Good, R. A.,
and of 62.0, Vernier, childhood: R. L.: The nephrotic syndrome clinical Invest., Benign and 45: reand

Singer, D. Marshall,
matunia

B.,

Hill, L.

J., and
in childhood.

L., Swenson,
New

Rosenberg, H. S., R.: Recurrent heEng.

J. Med.,

279:

7, 1968. Acknowledgment
We acknowledge assistance of Dr.

immunological,
correlations.

with
F.

gratitude W. Wiglesworth,

the

cooperation Director,

pathologic

J. Clin.
Vernier, R. L.:

1966.
E. M., and

Department
Hospital.

of

Pathology,

Montreal

Childrens

3.

Ayoub,

HOW

OFTEN

SHOULD

ONE
vious

TAKE
that

A BATH?
matter
and acts

During the Victorian era, children, if bathed at all, usually found Saturday evening the day chosen by their parents. Daily bathing was not considered necessary, and might even be harmful. A good example of mid-eighteenth century medical advice written for children about this matter is given below:

this its
the the

cannot
lungs, it

be

long
will be or

present
apparent, ceases

to

perform
tions
that

office.
skin
skin

As to the

assimilation

of functo

of
when

imperfectly,

A late writer
nat enough utters to the bathe

in the Medical
opinion the that whole once body

and
a for

Surgical
week the next now is purpose to the so

Jouroften of skin

act at all, the lungs have an extra amount of duty to perform; and it is generally in just such cases that engorgement takes place, constituting infiammation or pneumonia. While a great number of health statisticians attribute the increase of modem longevity to this and
that flannel, We savages enjoy the is, healthful can cause, linen well to bathe luxury of of prudential bathing, NOTED is we believe and cotton once clean a understand that how day, linen. the clothes but We benefits are necessary not are no of it cheap is for overlooked.

luxury at all
healthful

or cleanliness.
seasons
than

Flannel
proper,
the daily

worn
and
baths

is
all

is

infinitely

more
fashion-

those where

who the

able. The
glands
ing its removed

believers necessary

oil
surface. as

which
skin,
Now fast as

of the

is secreted by the sebaceous serves the purpose of lubricatif

in extraordinary
point and is

water

indulgence,
departure the BY important

but
from JR.,

this

secretion its destined

is

constantly object

exuded,

T. E. C.,

question. M.D.

thereby
spiratory quire

defeated. glands,
this unctuous

The
and

them
ing

in health
of the whole

and

excretory ducts of the perthe glands themselves, rematter of the skin, to keep action. If very frequent bathis practiced, it must be ob-

REFERENCE

1.

Pinckney, C.: The Book of Useful Knowledge: or Interesting Facts. Boston: C. C. P. Moody,
pp. 171-173, 1851.

body

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BENIGN FAMILIAL HEMATURIA Melvin I. Marks and Keith N. Drummond Pediatrics 1969;44;590
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PEDIATRICS is the official journal of the American Academy of Pediatrics. A monthly publication, it has been published continuously since 1948. PEDIATRICS is owned, published, and trademarked by the American Academy of Pediatrics, 141 Northwest Point Boulevard, Elk Grove Village, Illinois, 60007. Copyright 1969 by the American Academy of Pediatrics. All rights reserved. Print ISSN: 0031-4005. Online ISSN: 1098-4275.

Downloaded from pediatrics.aappublications.org at Indonesia:AAP Sponsored on February 24, 2013