Paper - A case of congenital cystic kidney, associated with several other abnormalities (1925)
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West CM. A case of congenital cystic kidney, associated with several other abnormalities. (1925) J Anat. 59: 401–409.PMID 17104076
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A Case of Congenital Cystic Kidney, associated with several other Abnormalities
By C. M. West Trinity College, Dublin
The specimen to be described was that of a seven-months’ foetus born in the Rotunda Hospital and kindly sent to the Department of Anatomy in Trinity College, Dublin.
The history of the mother received from the Hospital was as follows: K. E. aet. 19, unmarried, 1-para admitted to hospital 9. xi. 24. No abnormalities were found on general examination. Seven hours in labour. Patient was admitted with foot prolapsed through vulva and said it had been down 10 hours. Second foot brought down; patient not getting much pains, but eventually buttocks were born. The child was then seen to have a very large abdomen; extracted without much difficulty. Twenty-eight weeks development, male, weight 44 pounds, length 16 inches; lived 2 hours. Congenital cystic kidney and other abnormalities. On receipt the foetus was found to have a greatly distended abdomen and the left foot was clubbed; there did not appear to be any other external abnormality. The specimen was then injected with 10 per cent. formalin through the umbilical vein.
On opening the abdomen the right hypochondrium and parts of the epigastrium and right lumbar region were found to be occupied by a large cystic right kidney; the liver had been much compressed and was displaced to the left. The lower parts of both lumbar regions, the iliac fossae and the upper portion of the pelvis were filled by what was at first thought to be distended large intestine, but was found on further examination to be the greatly dilated ureters, the caecum lying up under the liver in the median plane with the rest of the intestine coiled in the epigastrium and umbilical regions between the liver and the large right kidney and the ureters. Occupying the pelvic cavity and extending upwards as far as the umbilicus and backwards to the sacrum was a tense fluctuating tumour, which towards the umbilicus was quite firm and hard to the touch; this proved to be composed entirely of a distended and hypertrophied bladder, the hard and firm upper portion being due to the great hypertrophy of the bladder wall in this situation (fig. 1).
The testes were hidden from view by the dilated ureters and occupied the iliac fossae. The gubernacula could be easily recognised passing out along the inguinal canal; running across the surface of the distended ureter and bladder were the umbilical arteries and the vasa deferentia. The left kidney could not be seen nor was it palpable. There was a Meckel’s diverticulum 23-5 cm. from the ileo-caecal junction. On removing the liver it was found to be very distorted and was much more lobulated than usual; there were no cysts found in it. The foramen ovale of the heart was larger than one would expect to find in a foetus of this age. |
Fig. 1. Semi-diagrammatic drawing of the abdomen, after opening and removal of most of the intestine. B. Bladder; C. Colon; Gu. Gubernaculum; K. Kidney; Z. Liver; T. Testis; U. Ureter; U.A. Umbilical artery; U.V. Umbilical vein; Vd. Vas deferens.
The Urino-Genital System
The right kidney was greatly enlarged, measuring 9-5 x 6-8 cm., its surface being studded with innumerable cysts of varying size; spread out over the supero-medial surface of the kidney was the suprarenal gland, with the inferior vena cava flattened out along its medial side (fig. 2).
On compressing the surface of the kidney, certain of the cysts could be made to collapse with an accompanying distention of the bladder, and conversely, pressure on the bladder caused a return of the cysts to their former distended state, showing that evidently some communication existed between the cavities of the cysts and the urinary tract, i.e. they were not retention cysts. On mesial longitudinal section the kidney presented the cut surfaces of the cysts, which contained a clear dark straw-coloured fluid, and of which the whole substance of the kidney was composed, there being no normal kidney tissue at all. The pelvis of the kidney was not unduly dilated, that is, there was not a condition of hydronephrosis present, and the ureter opened by a small circular orifice large enough to admit a fine quill. The renal artery was smaller than one would expect to find in a foetus of this age.
Fig. 2. Semi-diagrammatic drawing of mesial section of bladder. B. Posterior diverticulum of bladder; J.V.C. Inferior vena cava; K. Kidney; R. Rectum; S.@. Suprarenal gland; 7'. Testis; U. Ureter; U.O. Ureteric orifice; Vd. and Vd (left). Right and left vasa deferentia.
The left kidney was normal in position but smaller in size than usual, measuring 4-2 x 2-8 cm. It showed no signs of foetal lobulation and on close examination the surface, especially at the upper and lower poles, was seen to be covered with numerous small cysts about the size of a large pin’s head. The suprarenal gland appeared normal in position and shape. The whole kidney was much firmer in consistence and altogether presented a more normal appearance than that of the opposite side, and on mesial section, it was found that the small cysts involved mainly the periphery of the organ; the pelvis was considerably dilated, so much so indeed that the kidney substance measured only 4 mm. in its thickest part; the opening of the ureter was larger than on the right side, in fact there was a condition of commencing hydronephrosis.
On microscopical examination the entire periphery of the kidney was composed of cysts of varying size, and in between them here and there were much distorted and compressed glomeruli. Nearer the centre of the kidney were numerous glomeruli, many of them appearing larger than usual, with, frequently, distended and thickened capsules. In the medullary portion were found tubules in varying degrees of distention, some appearing normal while others were greatly dilated. It was noticeable in the case of several of the dilated tubules that the wall of the tubule was separated from the surrounding kidney tissue by a considerable space; in the cortical part of the kidney too, many of the tubules were distended. Most of the cysts in the periphery appeared to be closed spaces and to have no communication with the uriniferous tubules, but here and there a communication was found to exist between the cysts and the uriniferous and collecting tubules by means of a short and constricted tubule. Throughout the whole kidney there was an excess of fibrous tissue, of which there seemed to be a great proliferation in the neighbourhood of the pelvis.
The condition in each of the two ureters was very similar; they were both greatly distended, sacculated and convoluted, being large enough here and there to admit two or three fingers (figs. 1, 2 and 8); the convolutions were such that it was a matter of considerable difficulty to pass a probe along the duct, the sacculation having resulted in an infolding of the wall so as almost to obstruct completely the lumen of the vessel. There was communication between the two ureters-and the bladder, pressure on the right kidney causing distention of the opposite ureter. Each of the ureters opened by a small orifice into the bladder (fig. 2), the ureteric side of the opening being guarded by a sort of valve-like fold of the mucous membrane. Stretched out over the surface of the distended ureters were (a) the internal spermatic vessels passing to the testes, which were lodged in the iliac fossae and overlapped by the lateral edge of the ureter; (b) the umbilical arteries which passed in an anterior show convolution and distention of left and medial direction from under cover of the testis to the bladder, along the antero- Testis; U. Ureter; Vd. Vas deferens. inferior surface of which they passed towards the umbilicus, where the two vessels appeared to unite; (c) the vas deferens which ran transversely across the posterior surface of the bladder and whose course will be discussed later.
Fig. 3. Semi-diagrammatic drawing to en B. Bladder; K. Kidney; S. Spleen; S.G. Suprarenal gland; 7.
The bladder formed a tense swelling in the pelvis and extended upwards to the umbilicus, where it formed a hard tumour-like mass; the organ was irregular in shape, presenting a sort of pouch-like diverticulum which was directed from its postero-inferior part against the sacrum; from the bottom of this pouch to the apex measured 8-6 cm. The bladder was crossed anteriorly in an upward direction by the umbilical arteries and posteriorly in a transverse direction by the vasa deferentia. The apex of the bladder extended right up to the umbilicus, there was thus no urachus. On mesial section the bladder wall was found to be greatly hypertrophied, measuring 5 mm. at its thickest part, and the cavity was marked by numerous diverticula and ridges due to hypertrophy of the underlying muscle; it presented, in short, very much the appearance of the bladder in a case of longstanding enlargement of the prostate (fig. 2).
Fig. 4. Diagram representing course of vasa deferentia. B. Bladder; Z. Epididymis; G. Gubernaculum; 7. Testis; U. Ureter; Vd. Vas deferens.
One of the diverticula. has already been mentioned as extending in a downward and backward direction towards the sacrum; this diverticulum occupied the lower part of the bladder, and had a somewhat different appearance from the upper part of the organ; its walls were thin, measuring only 1 mm. in thickness, and muscular fibres were but weakly developed in it, especially in its posterior wall; this part of the bladder appeared to have undergone a distention rather than a hypertrophy, and was separated from the upper part of the bladder by a definite muscular ring. In the bottom of the diverticulum was a semilunar valve-like fold of the mucous membrane opening in a downward direction, with a slight ridge marking each horn of the crescent. The openings of the ureters were by two small orifices which it was by no means easy to differentiate from some of the smaller diverticula or loculi of the bladder. 406 C. M. West
Unfortunately I made a mesial section of the whole infant before examining the urethra. I was nevertheless able to satisfy myself that-it was patent throughout its whole length—a fine glass probe, with a blunt rounded end, could be passed without difficulty along it. The prepuce was closely adherent to the glans penis and was not easily reflected from it and was somewhat twisted round the end of the penis, though not to such an extent as to cause any obstruction to the outflow of urine. The external urinary meatus was quite clear and patent.
The two testes appeared normal in size and shape and occupied the position already stated.
The two vasa deferentia ran transversely medially across the posterior surface of the bladder, but the appearance of each differed considerably. The right had the more normal appearance of the two, and was quite definite, large and convoluted all the way from the testis to its termination; the left vas was very slender and it was with difficulty that it could be traced at all, and in place of being convoluted, it ran a perfectly straight course, except for a small part near its origin from the epididymis. The two ducts passed medially from the testes, being spread out over the distended ureter, on to the posterior surface of the bladder till they reached the middle line where they turned vertically downwards, the left being in close apposition to the convolutions of the right. They ran down on the posterior surface of the bladder until they reached its dilated posterior diverticulum, where they pierced the bladder wall on each side of the middle line (fig. 4), opening on the ridges which marked the horns of the semilunar fold of mucous membrane already mentioned. There was no sign of any seminal vesicles.
It was not possible to demonstrate with certainty any prostate gland.
Beyond a club-foot on the left side and a rather large foramen ovale in the heart, the foetus did not exhibit any other abnormality.
It is worth noticing the combination of abnormalities found in this case— the condition of the urino-genital system, Meckel’s diverticulum, club-foot, lobulation of the liver and the size of the foramen ovale in the heart. No cysts of the liver were found in this case, but it is not uncommon to find cysts of the liver associated with cystic disease of the kidney; Eisendrath(4) states that cysts of the liver occur in about 18 per cent. of cases. In cystic disease of the kidneys the condition may be associated with either great increase or diminution in the size of the organs; Leopold and Kunstler(7) describe a case in an infant of 8 months, in which the kidneys were much enlarged; Greene (5), on the other hand, gives an account of the condition in a girl of 8 years, in whom both kidneys were atrophic and much reduced in size. The present case shows great enlargement on the right side and diminution on the left. The condition appears to be more usual between the ages of 40 and 50, and is more frequently bilateral than unilateral (Barnett (2)).
As regards the causation of the condition, several now well-known theories have been advanced, of which the one that has met with most general acceptance is that the condition is due to a failure of union between the two developmentally distinct parts of the kidney, that is, a failure of union between the uriniferous and collecting tubules. Kampmeier(6) has recently put forward a suggestion that there is an apparently constant appearance of renal cysts at a certain period of foetal life; he has been able to observe: (a) the existence of a vestigial primary generation of uriniferous tubules; (b) the occasional cystic transformation of such vestigial tubules; (c) the early communication of the next or-second order of uriniferous tubules with the collecting ducts of the corresponding order; (d) the temporary detachment of most of these tubules from the secondary collecting ducts and their reunion with ducts of the 4th and 5th orders; (e) the later permanent separation of these uriniferous tubules from the ducts and the cystic transformation of them. Neither of these theories seems to be applicable to all cases, for in both one would expect the cysts to be closed cavities and not to have any communication with the pelvis of the kidney; certainly the cysts are frequently of the closed type, but in some few it can be demonstrated that there is a communication between the cavity of the cyst and that of the ureter. If the condition were due to an obstruction to the outflow of urine from the uriniferous tubule to the collecting duct, it seems that when the condition is in an early stage, one should be able to recognise a general enlargement of the uriniferous tubule and not of the collecting duct, and that it should not be possible to demonstrate small spheroidal cysts. Greene(5) was able to show, in the case already cited, by means of a wax plate reconstruction that the cysts were in no sense retention cysts, but were due to a cystic dilatation especially of the second part of the proximal convoluted tubule. It seems possible that when the condition which had commenced in this manner had developed further, the cysts so formed would cause pressure here and there on neighbouring dilated tubules and would thus obstruct the lumen of the tubule, which by an invasion of fibrous tissue, of which there is usually a large amount in these cases, would be completely obliterated and so cause the formation of the closed cyst. It has already been mentioned that in the present case a communication between certain of the cysts in the right kidney and the cavity of the bladder could be demonstrated by means of pressure, and this was confirmed by examination of the kidney when the cysts were opened, when it was found that some of the cysts were not closed cavities but had small tubules leading from them. This could also be demonstrated by microscopical examination of the left kidney, which was affected to a much less degree than the right, and in which certain of the large peripheral cysts were found to have a small tubule leading from them which, in serial section, could be traced to a collecting duct. There was a large amount of fibrous tissue in this specimen, and it seems possible that the shutting off of the closed cysts may be due to an invasion of fibrous tissue and indeed that it may have been the original cause of the primary dilatation of the tubules.
The condition of the bladder in the present case is most unusual, and it raises the interesting question as to when the foetus commences to excrete urine. That there must have been a very considerable secretion of urine is evidenced by the state of dilatation of the whole urinary tract, which leads one to wonder how so much urine can have been secreted by two such indifferently functioning kidneys.
One would expect to find some obstruction in the urethra in such a case as this, but there does not appear to have been any obstruction along the length of the urinary tract; similar cases of hypertrophy of the bladder without urethral obstruction have been described on previous occasions, though they do not appear to be frequent (Ballantyne(1)). As a cause of the hypertrophy of the bladder, Thomson (8) suggests that the condition is comparable to that of congenital hypertrophic stenosis of the pylorus, and may be due to a lack of co-ordination in the bladder musculature; that when the bladder as a whole contracts, there is a simultaneous contraction of the sphincter vesicae, ultimately resulting in a hypertrophy of both sets of muscles.
A distention of the ureters and hydronephrosis may exist without any hypertrophy of the bladder and without any urethral obstruction (Blackwood (3)).
As regards the large diverticulum of the bladder in the present case, and the relation to it of the vasa deferentia, it is probable that this part of the bladder represents that part of the uro-genital sinus which normally forms the prostatic portion of the urethra, and which in this case has become incorporated in the bladder together with the seminal vesicles.
The case shows multiple abnormalities—cystic kidneys, unilateral hydronephrosis, dilatation of the ureters to an enormous extent, hypertrophy and dilatation of the bladder, abnormal arrangement of seminal ducts, apparent fusion of the two umbilical arteries at the-umbilicus, a Meckel’s diverticulum, a much lobulated liver, a large foramen ovale and a club-foot.
The cysts of the kidneys are of various sizes, some appear to be retention cysts while others communicate with the rest of the urinary tract. It is suggested that the closed cysts may have become shut off by means partly of the pressure of neighbouring cysts and partly by a marked proliferation and subsequent invasion of fibrous tissue.
The bladder is much hypertrophied and dilated and presents in its posteroinferior part a large diverticulum, into which open the vasa deferentia; it is suggested that this part of the bladder represents that part of the uro-genital sinus which normally takes part in the formation of the prostatic portion of the urethra, (1
(4) (5) (6) (7) (8)
BauiantyneE, J. W. Manual of Antenatal Pathology and Hygiene (The Foetus). Edinburgh. 1902. pp. 381-383.
Bagnett, C. E. “Polycystic Kidney.” Surg. Gyn. and Obs. vol. x1x. pp. 753-756. 1914. Biackwoop, C. MaBeu. ‘Congenital Hydronephrosis with or without dilatation of the Ureters and Bladder.” Edin. Med. Journ. vol. xui. pp. 919-921. 1896.
E1sznpratu, D. N. “Polycystic Kidneys and Liver.” Annals Surg. vol. Lxxi. pp. 62-64. 1921.
GREENE, C. H. “Bilateral hypoplastic cystic Kidneys.” Amer. Journ. Dis. of Child. vol. xxtv. pp. 1-19. 1922.
Kampmeler, O. F. “A hitherto unrecognised mode of origin of Congenital Renal Cysts.” Surg. Gyn. and Obs. vol. XxxXvI. pp. 208-216. 1923.
LEoro.p, J. S. and Kunst.er, M. B. ‘Polycystic disease of the Kidney in an infant three months old.” Amer. Journ. Dis. of Child. vol. x. pp. 367-375. 1915.
Tuomson, J, “A defective co-ordination, in utero, as a probable factor in the causation of certain Congenital Malformations.” Brit. Med. Journ. vol. 11. pp. 678-679. Sept. 6th, 1902.
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