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PRENATAL DIAGNOSIS OF AN EARLY MANIFESTATION OF AUTOSOMAL DOMINANT ADULT-TYPE POLYCYSTIC KIDNEY DISEASE
988 rise (1:8 to 1:320) of complement-fixing antibodies to HSV type 2. Tests for syphilis were negative. Protein electrophoresis revealed an increased a2-fraction. The serum IgM was slightly depressed at 0 -4
g/l (normal 0 - 5-3 -1). A serum autoantibody screen was negative. The cerebrospinal fluid (CSF) contained 15 lymphocytes/1, two red cells/µl, and a protein concentration of 0 -64 g/1. IgG and albumin levels were 44 mg/1 and 325 mg/1, respectively, with a normal ratio of IgG to albumin in CSF compared with serum. Repeat CSF examination 10 days later showed a rise in protein concentration to I - 60 g/1 with five lymphocytes/1. Complement fixation titres for herpes simplex antibodies showed no diagnostic rise. A
herpes simplex radiculomyelopathy was made. The patient was treated with topical lignocaine jelly with idoxuridine, together with adenine arabinoside 600 mg in 24 h intravenously for 5 days. Leg power returned to normal and the patient was walking normally within two weeks. Full recovery of sensory function occurred over the next month. The urinary catheter was withdrawn 5 days after the patient’s admission. A diagnosis of herpes simplex genitalis was based on a typical diagnosis
of
clinical appearance combined with virus isolation from the genital lesions and the urine. Spinal cord disturbance secondary to HSV infection, type 1 or 2, is unusual. A case of myelitis, confirmed post mortem, secondary to type 1 infection has been reported.8The diagnosis was based on virus isolation from the CSF, which, paradoxically, showed a predominance of neutrophil leucocytes and a depressed glucose concentration. Eventually a tetraparesis developed with facial weakness though brain stem changes post mortem were not mentioned. A less convincing case, due to type 2 infection, has been recorded by Craig and Nahimias.7The patient had a prior genital infection. Spinal cord involvement was deduced from a sensory disturbance ascending to the umbilicus and a questionable plantar response on one side. Sensory symptoms and sphincter impairment predominated in this case. Motor function appears to have been normal though there was lower limb areflexia. The association with herpes infection was based on virus isolation from vulval lesions. Perhaps the increasing incidence of this infection, as your editorial implies, may alert physicians to its varying clinical ’
manifestations.9 Department of Cardiology, Guy’s Hospital,
CLIVE E. HANDLER
London SE1 9RT
Department of Neurology, Charing Cross Hospital,
G. D. PERKIN
London W6 8RF
PRENATAL DIAGNOSIS OF AN EARLY MANIFESTATION OF AUTOSOMAL DOMINANT ADULT-TYPE POLYCYSTIC KIDNEY DISEASE
SIR,—In the 33rd week of the pregnancy of a 27-year-old woman (gravida 2, para 0), distinctly enlarged fetal kidneys with
predominantly centrally
located
cystic
structures were seen on
sonography. Furthermore, pronounced fetal ascites of unknown cause was noted with subsequent restriction of the large, irregularly structured fetal liver at the falciform hepatic ligament. During genetic counselling directed at classifying the fetal cystic kidneys, we learned that the pregnant woman’s 53-year-old mother had been on dialysis for 3 years because of polycystic kidneys. The maternal grandmother had died at 40 years of age of a questionable carcinoma of the uterus and this grandmother’s sister was said to have died of kidney disease. As expected, adult polycystic kidney disease (APCD) was confirmed by ultrasound in the mother post partum. The child, a girl now 1 year old, had very enlarged kidneys at birth, with large bulges resembling cysts and visible through the abdomen. During the first year of life, kidney size has steadily increased. An isotope nephrogram of the regularly increasing and the so-called "accumulation" kind revealed changes characteristic*
of APCD. Surprisingly, kidney function has so far been normal. The child will be followed up and reported on later on. The prenatal and postnatal findings and the family history pointed to an unusually early manifestation of dominantly inherited APCD Potter type m, here prenatally diagnosed for the first time. Both interpretation of ultrasound findings,and investigation of the family history are necessary for the precise classification of cystic changes of the kidney after prenatal diagnosis. A special prenatal diagnostic plan for all pregnancies with a high risk of the birth of a child with APCD is justified. However, even negative findings cannot rule out the disease.
Despite the high prevalence (about 1:1000)2 and nearly complete penetranceof APCD, very few affected patients realise that the disease is hereditary. 2,3 We have diagnosed APCD by ultrasound in the relatives of patients without their having had any previous knowledge that they were at risk. Genetic counselling of all patients with APCD and their relatives is desirable for this is the only way to achieve early diagnosis in the probands and to allow them to decide, taking into account all possible risks, whether to have children. Institute for Human Genetics,
University of Bonn, 5300 Bonn
Snoeck JM, Flament J, Thiry L. Ascending myelitis association with Herpes simplex virus N Engl J Med 1972; 287: 182-84 9. Brain RT. The clinical vagaries of the Herpes virus. Br Med J 1956; i: 1061-68.
Klastersky J, Cappel R,
in
HENNING WEISS MONIKA BULLA BERNHARD ROTH
ANAPHYLACTOID REACTIONS TO ACETYLCYSTEINE
SIR,—Intravenous acetylcysteine (NAC) very effectively protects against hepatic and renal damage from severe paracetamol (acetaminophen) poisoning if administered within 10 h of paracetamol ingestion.4Side-effects of NAC are rare; "occasional retching and vomiting mostly during the first hour or so of treatment" has been described5 but these symptoms had usually been present before treatment. A minor transient rise of blood pressure has been reported in three patients and Walton et al.6 have described a patient who had a generalised erythematous rash, itching, severe breathlessness, and tachycardia within 30 min of the start of intravenous therapy. Duncan Flockhart, the manufacturers ofNAC (’Parvolex’) have been informed offive patients who reacted to this antidote within 5-10 min of the start of treatment. Four of the five cases had urticaria, three had oedema of the face and lips, two had bronchospasm, and one had a "cardiovascular collapse". We wish to report a further patient who reacted adversely to NAC. A 49-year-old woman was admitted after she had ingested about 50 tablets of paracetamol and a bottle of sherry. She had for many years taken phenytoin and phenobarbitone for the control of epilepsy. The plasma paracetamol on admission (at least 8 h postingestion) was 146 mg/l, so intravenous NAC 150 mg/kg over 15 min was started. Within 5-10 min a patchy erythematous rash appeared over the patient’s face and arms and she complained of wheeziness and difficulty in breathing. The infusion was discontinued and the symptoms subsided within 10 min. She then 7 received oral methionine, the alternative antidote. West Midlands Poisons Dudley Road Hospital, Birmingham B18 7QH
Unit,
J. A. VALE D. C. WHEELER
East Birmingham Hospital 1. Weiss
H,
Zerres
K,
Nierenveränderungen mit
Hansmann M. Pränatale Diagnose zystischer Hilfe der Ultra-schalltechnik. Ultraschall 1981; 2:
244-48. 2
Dalgaard OZ.
Bilateral
polycystic disease of
the
kidneys. Copenhagen: Munksgaard,
1957. 3. 4.
5.
Sahney S, Weiss L, Levin NW. Genetic counselling in adult polycystic kidney disease. Am J Med Genet 1982; 11: 461-68. Prescott LF, Illingworth RN, Critchley JAJH, Stewart MJ, Adam RD, Proudfoot AT. Intravenous N-acetylcysteine: the treatment of choice for paracetamol poisoning. Br Med J 1979; ii: 1097-1100 Prescott LF, Park J, Ballantyne A, Adriaenssens P, Proudfoot AT. Treatment of paracetamol (acetaminophen) poisoning with N-acetylcysteine. Lancet 1977, ii 432-34.
NG, Mann TAN, Shaw KM. Anaphylactoid reaction to N-acetylcysteine Lancet 1979; ii: 1298. 7. Vale JA, Meredith TJ, Goulding R. Treatment of acetaminophen poisoning. The use of oral methionine. Arch Intern Med 1981; 141: 394-96.
6. Walton 8.
KLAUS ZERRES
1, West Germany
Evangelisches Krankenhaus Köln-Lindenthal, Cologne University Children’s Clinic, Cologne
g/l (normal 0 - 5-3 -1). A serum autoantibody screen was negative. The cerebrospinal fluid (CSF) contained 15 lymphocytes/1, two red cells/µl, and a protein concentration of 0 -64 g/1. IgG and albumin levels were 44 mg/1 and 325 mg/1, respectively, with a normal ratio of IgG to albumin in CSF compared with serum. Repeat CSF examination 10 days later showed a rise in protein concentration to I - 60 g/1 with five lymphocytes/1. Complement fixation titres for herpes simplex antibodies showed no diagnostic rise. A
herpes simplex radiculomyelopathy was made. The patient was treated with topical lignocaine jelly with idoxuridine, together with adenine arabinoside 600 mg in 24 h intravenously for 5 days. Leg power returned to normal and the patient was walking normally within two weeks. Full recovery of sensory function occurred over the next month. The urinary catheter was withdrawn 5 days after the patient’s admission. A diagnosis of herpes simplex genitalis was based on a typical diagnosis
of
clinical appearance combined with virus isolation from the genital lesions and the urine. Spinal cord disturbance secondary to HSV infection, type 1 or 2, is unusual. A case of myelitis, confirmed post mortem, secondary to type 1 infection has been reported.8The diagnosis was based on virus isolation from the CSF, which, paradoxically, showed a predominance of neutrophil leucocytes and a depressed glucose concentration. Eventually a tetraparesis developed with facial weakness though brain stem changes post mortem were not mentioned. A less convincing case, due to type 2 infection, has been recorded by Craig and Nahimias.7The patient had a prior genital infection. Spinal cord involvement was deduced from a sensory disturbance ascending to the umbilicus and a questionable plantar response on one side. Sensory symptoms and sphincter impairment predominated in this case. Motor function appears to have been normal though there was lower limb areflexia. The association with herpes infection was based on virus isolation from vulval lesions. Perhaps the increasing incidence of this infection, as your editorial implies, may alert physicians to its varying clinical ’
manifestations.9 Department of Cardiology, Guy’s Hospital,
CLIVE E. HANDLER
London SE1 9RT
Department of Neurology, Charing Cross Hospital,
G. D. PERKIN
London W6 8RF
PRENATAL DIAGNOSIS OF AN EARLY MANIFESTATION OF AUTOSOMAL DOMINANT ADULT-TYPE POLYCYSTIC KIDNEY DISEASE
SIR,—In the 33rd week of the pregnancy of a 27-year-old woman (gravida 2, para 0), distinctly enlarged fetal kidneys with
predominantly centrally
located
cystic
structures were seen on
sonography. Furthermore, pronounced fetal ascites of unknown cause was noted with subsequent restriction of the large, irregularly structured fetal liver at the falciform hepatic ligament. During genetic counselling directed at classifying the fetal cystic kidneys, we learned that the pregnant woman’s 53-year-old mother had been on dialysis for 3 years because of polycystic kidneys. The maternal grandmother had died at 40 years of age of a questionable carcinoma of the uterus and this grandmother’s sister was said to have died of kidney disease. As expected, adult polycystic kidney disease (APCD) was confirmed by ultrasound in the mother post partum. The child, a girl now 1 year old, had very enlarged kidneys at birth, with large bulges resembling cysts and visible through the abdomen. During the first year of life, kidney size has steadily increased. An isotope nephrogram of the regularly increasing and the so-called "accumulation" kind revealed changes characteristic*
of APCD. Surprisingly, kidney function has so far been normal. The child will be followed up and reported on later on. The prenatal and postnatal findings and the family history pointed to an unusually early manifestation of dominantly inherited APCD Potter type m, here prenatally diagnosed for the first time. Both interpretation of ultrasound findings,and investigation of the family history are necessary for the precise classification of cystic changes of the kidney after prenatal diagnosis. A special prenatal diagnostic plan for all pregnancies with a high risk of the birth of a child with APCD is justified. However, even negative findings cannot rule out the disease.
Despite the high prevalence (about 1:1000)2 and nearly complete penetranceof APCD, very few affected patients realise that the disease is hereditary. 2,3 We have diagnosed APCD by ultrasound in the relatives of patients without their having had any previous knowledge that they were at risk. Genetic counselling of all patients with APCD and their relatives is desirable for this is the only way to achieve early diagnosis in the probands and to allow them to decide, taking into account all possible risks, whether to have children. Institute for Human Genetics,
University of Bonn, 5300 Bonn
Snoeck JM, Flament J, Thiry L. Ascending myelitis association with Herpes simplex virus N Engl J Med 1972; 287: 182-84 9. Brain RT. The clinical vagaries of the Herpes virus. Br Med J 1956; i: 1061-68.
Klastersky J, Cappel R,
in
HENNING WEISS MONIKA BULLA BERNHARD ROTH
ANAPHYLACTOID REACTIONS TO ACETYLCYSTEINE
SIR,—Intravenous acetylcysteine (NAC) very effectively protects against hepatic and renal damage from severe paracetamol (acetaminophen) poisoning if administered within 10 h of paracetamol ingestion.4Side-effects of NAC are rare; "occasional retching and vomiting mostly during the first hour or so of treatment" has been described5 but these symptoms had usually been present before treatment. A minor transient rise of blood pressure has been reported in three patients and Walton et al.6 have described a patient who had a generalised erythematous rash, itching, severe breathlessness, and tachycardia within 30 min of the start of intravenous therapy. Duncan Flockhart, the manufacturers ofNAC (’Parvolex’) have been informed offive patients who reacted to this antidote within 5-10 min of the start of treatment. Four of the five cases had urticaria, three had oedema of the face and lips, two had bronchospasm, and one had a "cardiovascular collapse". We wish to report a further patient who reacted adversely to NAC. A 49-year-old woman was admitted after she had ingested about 50 tablets of paracetamol and a bottle of sherry. She had for many years taken phenytoin and phenobarbitone for the control of epilepsy. The plasma paracetamol on admission (at least 8 h postingestion) was 146 mg/l, so intravenous NAC 150 mg/kg over 15 min was started. Within 5-10 min a patchy erythematous rash appeared over the patient’s face and arms and she complained of wheeziness and difficulty in breathing. The infusion was discontinued and the symptoms subsided within 10 min. She then 7 received oral methionine, the alternative antidote. West Midlands Poisons Dudley Road Hospital, Birmingham B18 7QH
Unit,
J. A. VALE D. C. WHEELER
East Birmingham Hospital 1. Weiss
H,
Zerres
K,
Nierenveränderungen mit
Hansmann M. Pränatale Diagnose zystischer Hilfe der Ultra-schalltechnik. Ultraschall 1981; 2:
244-48. 2
Dalgaard OZ.
Bilateral
polycystic disease of
the
kidneys. Copenhagen: Munksgaard,
1957. 3. 4.
5.
Sahney S, Weiss L, Levin NW. Genetic counselling in adult polycystic kidney disease. Am J Med Genet 1982; 11: 461-68. Prescott LF, Illingworth RN, Critchley JAJH, Stewart MJ, Adam RD, Proudfoot AT. Intravenous N-acetylcysteine: the treatment of choice for paracetamol poisoning. Br Med J 1979; ii: 1097-1100 Prescott LF, Park J, Ballantyne A, Adriaenssens P, Proudfoot AT. Treatment of paracetamol (acetaminophen) poisoning with N-acetylcysteine. Lancet 1977, ii 432-34.
NG, Mann TAN, Shaw KM. Anaphylactoid reaction to N-acetylcysteine Lancet 1979; ii: 1298. 7. Vale JA, Meredith TJ, Goulding R. Treatment of acetaminophen poisoning. The use of oral methionine. Arch Intern Med 1981; 141: 394-96.
6. Walton 8.
KLAUS ZERRES
1, West Germany
Evangelisches Krankenhaus Köln-Lindenthal, Cologne University Children’s Clinic, Cologne