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Bilateral ureteral and renal agenesis
BILATERAL
URETERAL
AND RENAL AGENESIS*
JOSEPH J.
SMITH,
Brookbx,
New I ‘ark
B
tissue of metanephric origin which has never developed any renaI function, or has undergone congenita1 atrophy.” The embryoIogic deveIopment of the definitive kidney must be understood to appreciate fuIIy the anomaly presented. During the fourth week of feta1 Iife, at which time the fetus measures 5 mm., the ureteric bud sprouts from the dorsa1 surface of the Wolffran duct near the cloaca. The dorsocephalad growth of this bud seems to be a very important factor in the differentiation of the condensation of mesenthyme, the metanephric blastema. In the normal deveIopment the ureteric bud carries the nephrogenic tissue to a position at the level of the tweIfth thoracic and first Iumbar vertebrae. During this growth the branching ends of the bud Iengthen and form the pelvis, caIices and coIIecting tubuIes. Concomitant with this growth the metanephric blastema develops into Henle’s Ioops and convoIuted tubules. These tubuIes finaIIy connect with the distal ends of the branching bud and receive the invaginating gIomeruIar capiIIary loops to form Bowman’s capsuIe. The WolffIan ducts in a IO-mm. embryo has aIready sprouted the ureteric buds and the metanephric cap has surrounded the dista1 portion of the ureter on its way to form the definitive kidney. Renal agenesis is believed to be due to Iack of deveIopment or dorsocephaIad growth of the ureteric bud. Much experimenta work has been done in order to determine the true inductor of the bud. GruenwaId emphasizes the time reIationship of the contact between the bud and the metanephric blastema, believing that if the contact does not take place in a limited time relationship with the metanephros the dorsocrania1 progress of this organ wouId put it out of reach of the bud. Potter first described the two anomalies which were observed in a11 her cases and which she believed to be CharacteristicaIIy associated with renaI agenesis. One was an abnormality of facial expression and the other,
ILATERAL uretera and renaI agenesis is a comparativeIy rare anomaIy. AmoIsch in 1937 stated that biIatera1 absence of the kidneys is an anomaly of such rarity and interest that the finding of such warrants a report. He aIso stated that biIatera1 agenesis of the kidneys unaccompanied with some evidence of maldevelopment in other organ systems was essentiaIIy unknown. According to Hinman bilateral renal and uretera agenesis was a deveIopmenta1 curiosity which occurred onIy in monstrosities. Grim in 1940 reported a case of an infant with biIatera1 renaI agenesis and no other abnormalities. Soloway in 12,000 autopsies at Cook County Hospital found onI? two cases of biIatera1 anephrogenesis, an incrdence of 0.0017 per cent. Potter in 1916 gave an incidence of four per one thousand deaths and stiIIbirths. She was the first observer to point out this anomaIy as being not as rare as previously thought. She described twenty infants with findings simiIar to those previousIy reported but with only four exhibiting muItipie skeIeta1 abnormalities; in only one m-as the abnormaIity of such great disturbance as to result in sirenomeIus. In her report she introduced a number of very important factors related to this anomaly which had not been previously described. SeveraI terms reIating to abnormaIities of the kidney are now we11 established. A brief definition of each will serve to refresh our thoughts on the subject as we11 as to she\\- the reIation by definition with renal agenesis. Nation’s &iticaI review with a point of establishing criteria to simpIify and secure the diagnosis did much to disentangle the situation. Renal agenesis is synonymous with renal agenesia and anephrogenesis. This term denotes “the compIete Iack of deveIopment of the metanephros on one or both sides.” Renal aplasia means an incompletely or defectively deveIoped kidney. Renal hypoplasia or secondary atrophy “is used properly onIy to denote the presence of * From Greenpoint
July,
1930
M.D.
Hospital,
73
Brooklyn,
N. Y.
Smith-BiIateraI
74
UreteraI
hypopIasia of the Iungs. Even though these two anomahes were constantly present in all her cases, she did not believe any specitic embryoIogic correIation existed between them and the renal anomaly. The facia1 characteristics pathognomonic of biIatera1 renal agenesis are increased space between the eyes, biIatera1 inner canthal foIds which extend down under each eye, a flattening of the nose, marked recession of the chin, and moderate enIargement and decreased chondrification of the ears. If the aforementioned facia1 characteristics are remembered, the diagnosis will be made more often. CASE
REPORT
M. M., aged forty-two, was first seen in the Greenpoint PrenataI Clinic on JuIy 15, 1948. Her Iast menstrual period was December 6th and the expected date of confinement September 13th. FamiIy history was negative. The patient had pneumonia at the age of twentyfour. She began her menses at the age of fourteen; her periods were regular every twentyeight days, lasting six days. She was a gravida IV, with three full term, normal, spontaneous deliveries. The children were we11 and normally deveIoped. SeroIogy and a11 urine specimens were negative. Her bIood pressure was within norma Iimits. Her prenata1 course was normal. The patient was admitted to the hospital at 4 P.M. on September 15, 1948, with mild uterine examination was essentiaIIy pains. Physical negative except for a fuIl term intrauterine gestation, breech, unengaged; the feta1 heart was reguIar (154); the cervix was dilated 2 cm. and membranes were intact. After a soap suds enema the pains became reguIar and strong. The cervix continued to dilate and at 6:oo P.M. the membranes ruptured, with the cervix diIated 6 cm. No abnormaIity in amount or character of the amniotic fluid was noted. At 6:30 P.M. the cervix was diIated 7 to 8 cm; the feta1 heart had been slowing gradually and the rate was 80 per minute. The patient was put in the TrendeIenberg position and given continuous oxygen. Despite this therapy the feta1 heart continued to remain sIow and sIightIy irreguIar. A diagnosis of cord compression was made. The breech was we11 engaged and the cervix was 8 cm. A steriIe vagina1 examination reveaIed a frank breech; a loop of non-puIsating cord was found tightIy encircling the thigh. The cervix was diIated 9 cm.
and
Rena1
Agenesis
and the fetal heart rate was 60 per minute. and pudental block with Local infiItration 35 per cent procaine were done, foIlowed with a right medioIatera1 episiotomy. The breech was brought down; the cord was reIeased but remained pulseless. DeIivery was completed with ease using Piper forceps. The chiId did not breathe at the time of delivery aIthough the heart was heard faintly and irregularly, ceasing after three minutes. A norma third stage foIIowed with the expuIsion of the pIacenta and membranes intact. The first stage Iasted three hours thirty minutes; the second, six minutes; the third, four minutes. The episiotomy was repaired in Iayers using interrupted chromic No. o suture. The patient had an uneventful postpartum course and was discharged on the seventh postpartum day. The male child weighed, 2,500 gm. and was 46 cm. long. ExternaIIy there were no gross abnormalities of the extremities or thorax. The head presented the characteristic facies: increased space between the eyes, biIatera1 inner canthal folds which extended downward and IateraIIy under each eye, a flattening of the nose, recession of the chin, and considerable enIargement of the ears (premature senility ears”). The gastrointestina1 with “eIephant system was normaI. The thoracic cage was norma in size but a definite hypoplasia of the Iungs was found. Both lungs weighed 9.5 gm.; the Iung weight for a normal child of this size should be about 48 gm. Potter says that this hypopIasia of the lungs is CharacteristicaIIy associated with bilateral’ renaI agenesis. The hIadder was smaI1 but we11 formed. The semina1 vesicles and testis were prostate, found to be normal. No trace of either ureter or kidney couId be found. The adrenals were present; they were normal in size but somewhat rounded in shape. One point of interest noted in this case and not obtainable in any of Potter’s case histories was the intact membranes and what appeared to be a normal amount of amniotic fluid. Obviously the exact amount of fluid couId not be measured but, clinically, fluid was present in what appeared to be the usua1 amount. Potter’s review showed that feta1 death occurred after birth in approximateIy 50 per cent of the cases, the length of life varying from twenty-five minutes to eIeven hours fifteen minutes; this chiId lived three minutes. In Potter’s series the babies’ weight varied from
American
Journ.al of Surgery
Smith-Bilateral
UreteraI
700 to 3,000 gm., with a median of 1,645; this infant weighed 2,300 gm. In her series of twenty there were seventeen males and three females; this child was a male. She points out a most striking sex association with regard to the maIe dominance which is greater than in any other congenital anomaIy except anencephaIy. In the latter anomaly, with a go per cent incidence of females, renal agenesis has never been reported.
and
Rena1
Agenesis
75
No reports have been found which can throw any light as to the rea1 cause of death in these infants. It does not appear that these infants die in uremia. It is hoped with this presentation and review that more cases will be diagnosed at the time of delivery and that an adequate work-up (bIood chemistry and analysis of amniotic fluid) wiIl be done so that a fuIIer understanding of the early neonatal as we11 as intrauterine physiology might be -. hrought about.
SUMMARY
A case of bilateral ureteral and renal agenesis is presented in a male infant at term that showed no other gross abnormaIities. A review of the incidence showed that this maIformation, once considered exceedingly rare, is present much more frequentIy. A review of the two characteristically associated anomalies, abnormahty of facies and hypoplasia of the Iungs, is given. This is the only reported case in the Iiterature in which there were intact membranes and a norma amount of amniotic fluid. There can be IittIe doubt, from this case, that amniotic fluid does appear in the complete absence of both kidneys.
REFERENCES
I. A~OLXH, A. L. Bilateral metanephric agenesia, with report of four cases. J. Ural., 38: 360, 1937. HINMAN, F , JR. Congenital bitateral absence of ‘. kidneys. Surg., Gynec. Ed Obst., 7 I: IOI, 1940. 3. GRIM, K. B. Bilateral renal and ureter-a1 agenesis. J. Ural., 44: 397, 1940. 4. SOLOWAY, H. M. BiIateraI and unilateral renaI agenesis. Ann. Surg., 109: 267, 1939. 5. POTTER, E. L. Bilateral renal agenesis. J. Pediat., 29: 68, 1946. 6. NATION, E. F. Renal aplasia. J. Ural., 5 I : 579, 1944. 7. GRUENWALD, P. Mechanism of kidnev development in human embryos as reveaIed by early stage in agenesis of ureteric buds. Anat. Rec., 75: 237, 1939. 8. POTTER, E. L. Facial characteristics of infants with biIatera1 renal agenesis. Am. J. Obst. CTGynec., 5 I : 885, 1946.
URETERAL
AND RENAL AGENESIS*
JOSEPH J.
SMITH,
Brookbx,
New I ‘ark
B
tissue of metanephric origin which has never developed any renaI function, or has undergone congenita1 atrophy.” The embryoIogic deveIopment of the definitive kidney must be understood to appreciate fuIIy the anomaly presented. During the fourth week of feta1 Iife, at which time the fetus measures 5 mm., the ureteric bud sprouts from the dorsa1 surface of the Wolffran duct near the cloaca. The dorsocephalad growth of this bud seems to be a very important factor in the differentiation of the condensation of mesenthyme, the metanephric blastema. In the normal deveIopment the ureteric bud carries the nephrogenic tissue to a position at the level of the tweIfth thoracic and first Iumbar vertebrae. During this growth the branching ends of the bud Iengthen and form the pelvis, caIices and coIIecting tubuIes. Concomitant with this growth the metanephric blastema develops into Henle’s Ioops and convoIuted tubules. These tubuIes finaIIy connect with the distal ends of the branching bud and receive the invaginating gIomeruIar capiIIary loops to form Bowman’s capsuIe. The WolffIan ducts in a IO-mm. embryo has aIready sprouted the ureteric buds and the metanephric cap has surrounded the dista1 portion of the ureter on its way to form the definitive kidney. Renal agenesis is believed to be due to Iack of deveIopment or dorsocephaIad growth of the ureteric bud. Much experimenta work has been done in order to determine the true inductor of the bud. GruenwaId emphasizes the time reIationship of the contact between the bud and the metanephric blastema, believing that if the contact does not take place in a limited time relationship with the metanephros the dorsocrania1 progress of this organ wouId put it out of reach of the bud. Potter first described the two anomalies which were observed in a11 her cases and which she believed to be CharacteristicaIIy associated with renaI agenesis. One was an abnormality of facial expression and the other,
ILATERAL uretera and renaI agenesis is a comparativeIy rare anomaIy. AmoIsch in 1937 stated that biIatera1 absence of the kidneys is an anomaly of such rarity and interest that the finding of such warrants a report. He aIso stated that biIatera1 agenesis of the kidneys unaccompanied with some evidence of maldevelopment in other organ systems was essentiaIIy unknown. According to Hinman bilateral renal and uretera agenesis was a deveIopmenta1 curiosity which occurred onIy in monstrosities. Grim in 1940 reported a case of an infant with biIatera1 renaI agenesis and no other abnormalities. Soloway in 12,000 autopsies at Cook County Hospital found onI? two cases of biIatera1 anephrogenesis, an incrdence of 0.0017 per cent. Potter in 1916 gave an incidence of four per one thousand deaths and stiIIbirths. She was the first observer to point out this anomaIy as being not as rare as previously thought. She described twenty infants with findings simiIar to those previousIy reported but with only four exhibiting muItipie skeIeta1 abnormalities; in only one m-as the abnormaIity of such great disturbance as to result in sirenomeIus. In her report she introduced a number of very important factors related to this anomaly which had not been previously described. SeveraI terms reIating to abnormaIities of the kidney are now we11 established. A brief definition of each will serve to refresh our thoughts on the subject as we11 as to she\\- the reIation by definition with renal agenesis. Nation’s &iticaI review with a point of establishing criteria to simpIify and secure the diagnosis did much to disentangle the situation. Renal agenesis is synonymous with renal agenesia and anephrogenesis. This term denotes “the compIete Iack of deveIopment of the metanephros on one or both sides.” Renal aplasia means an incompletely or defectively deveIoped kidney. Renal hypoplasia or secondary atrophy “is used properly onIy to denote the presence of * From Greenpoint
July,
1930
M.D.
Hospital,
73
Brooklyn,
N. Y.
Smith-BiIateraI
74
UreteraI
hypopIasia of the Iungs. Even though these two anomahes were constantly present in all her cases, she did not believe any specitic embryoIogic correIation existed between them and the renal anomaly. The facia1 characteristics pathognomonic of biIatera1 renal agenesis are increased space between the eyes, biIatera1 inner canthal foIds which extend down under each eye, a flattening of the nose, marked recession of the chin, and moderate enIargement and decreased chondrification of the ears. If the aforementioned facia1 characteristics are remembered, the diagnosis will be made more often. CASE
REPORT
M. M., aged forty-two, was first seen in the Greenpoint PrenataI Clinic on JuIy 15, 1948. Her Iast menstrual period was December 6th and the expected date of confinement September 13th. FamiIy history was negative. The patient had pneumonia at the age of twentyfour. She began her menses at the age of fourteen; her periods were regular every twentyeight days, lasting six days. She was a gravida IV, with three full term, normal, spontaneous deliveries. The children were we11 and normally deveIoped. SeroIogy and a11 urine specimens were negative. Her bIood pressure was within norma Iimits. Her prenata1 course was normal. The patient was admitted to the hospital at 4 P.M. on September 15, 1948, with mild uterine examination was essentiaIIy pains. Physical negative except for a fuIl term intrauterine gestation, breech, unengaged; the feta1 heart was reguIar (154); the cervix was dilated 2 cm. and membranes were intact. After a soap suds enema the pains became reguIar and strong. The cervix continued to dilate and at 6:oo P.M. the membranes ruptured, with the cervix diIated 6 cm. No abnormaIity in amount or character of the amniotic fluid was noted. At 6:30 P.M. the cervix was diIated 7 to 8 cm; the feta1 heart had been slowing gradually and the rate was 80 per minute. The patient was put in the TrendeIenberg position and given continuous oxygen. Despite this therapy the feta1 heart continued to remain sIow and sIightIy irreguIar. A diagnosis of cord compression was made. The breech was we11 engaged and the cervix was 8 cm. A steriIe vagina1 examination reveaIed a frank breech; a loop of non-puIsating cord was found tightIy encircling the thigh. The cervix was diIated 9 cm.
and
Rena1
Agenesis
and the fetal heart rate was 60 per minute. and pudental block with Local infiItration 35 per cent procaine were done, foIlowed with a right medioIatera1 episiotomy. The breech was brought down; the cord was reIeased but remained pulseless. DeIivery was completed with ease using Piper forceps. The chiId did not breathe at the time of delivery aIthough the heart was heard faintly and irregularly, ceasing after three minutes. A norma third stage foIIowed with the expuIsion of the pIacenta and membranes intact. The first stage Iasted three hours thirty minutes; the second, six minutes; the third, four minutes. The episiotomy was repaired in Iayers using interrupted chromic No. o suture. The patient had an uneventful postpartum course and was discharged on the seventh postpartum day. The male child weighed, 2,500 gm. and was 46 cm. long. ExternaIIy there were no gross abnormalities of the extremities or thorax. The head presented the characteristic facies: increased space between the eyes, biIatera1 inner canthal folds which extended downward and IateraIIy under each eye, a flattening of the nose, recession of the chin, and considerable enIargement of the ears (premature senility ears”). The gastrointestina1 with “eIephant system was normaI. The thoracic cage was norma in size but a definite hypoplasia of the Iungs was found. Both lungs weighed 9.5 gm.; the Iung weight for a normal child of this size should be about 48 gm. Potter says that this hypopIasia of the lungs is CharacteristicaIIy associated with bilateral’ renaI agenesis. The hIadder was smaI1 but we11 formed. The semina1 vesicles and testis were prostate, found to be normal. No trace of either ureter or kidney couId be found. The adrenals were present; they were normal in size but somewhat rounded in shape. One point of interest noted in this case and not obtainable in any of Potter’s case histories was the intact membranes and what appeared to be a normal amount of amniotic fluid. Obviously the exact amount of fluid couId not be measured but, clinically, fluid was present in what appeared to be the usua1 amount. Potter’s review showed that feta1 death occurred after birth in approximateIy 50 per cent of the cases, the length of life varying from twenty-five minutes to eIeven hours fifteen minutes; this chiId lived three minutes. In Potter’s series the babies’ weight varied from
American
Journ.al of Surgery
Smith-Bilateral
UreteraI
700 to 3,000 gm., with a median of 1,645; this infant weighed 2,300 gm. In her series of twenty there were seventeen males and three females; this child was a male. She points out a most striking sex association with regard to the maIe dominance which is greater than in any other congenital anomaIy except anencephaIy. In the latter anomaly, with a go per cent incidence of females, renal agenesis has never been reported.
and
Rena1
Agenesis
75
No reports have been found which can throw any light as to the rea1 cause of death in these infants. It does not appear that these infants die in uremia. It is hoped with this presentation and review that more cases will be diagnosed at the time of delivery and that an adequate work-up (bIood chemistry and analysis of amniotic fluid) wiIl be done so that a fuIIer understanding of the early neonatal as we11 as intrauterine physiology might be -. hrought about.
SUMMARY
A case of bilateral ureteral and renal agenesis is presented in a male infant at term that showed no other gross abnormaIities. A review of the incidence showed that this maIformation, once considered exceedingly rare, is present much more frequentIy. A review of the two characteristically associated anomalies, abnormahty of facies and hypoplasia of the Iungs, is given. This is the only reported case in the Iiterature in which there were intact membranes and a norma amount of amniotic fluid. There can be IittIe doubt, from this case, that amniotic fluid does appear in the complete absence of both kidneys.
REFERENCES
I. A~OLXH, A. L. Bilateral metanephric agenesia, with report of four cases. J. Ural., 38: 360, 1937. HINMAN, F , JR. Congenital bitateral absence of ‘. kidneys. Surg., Gynec. Ed Obst., 7 I: IOI, 1940. 3. GRIM, K. B. Bilateral renal and ureter-a1 agenesis. J. Ural., 44: 397, 1940. 4. SOLOWAY, H. M. BiIateraI and unilateral renaI agenesis. Ann. Surg., 109: 267, 1939. 5. POTTER, E. L. Bilateral renal agenesis. J. Pediat., 29: 68, 1946. 6. NATION, E. F. Renal aplasia. J. Ural., 5 I : 579, 1944. 7. GRUENWALD, P. Mechanism of kidnev development in human embryos as reveaIed by early stage in agenesis of ureteric buds. Anat. Rec., 75: 237, 1939. 8. POTTER, E. L. Facial characteristics of infants with biIatera1 renal agenesis. Am. J. Obst. CTGynec., 5 I : 885, 1946.