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ABSTRACT: Vascular calcification in children with long-standing dialysis is a unique phenomenon. Hyperphosphataemia and hyperparathyroidism are the major pathogenic risk factors. We describe a young patient with end-stage renal disease diagnosed since childhood and underwent prolonged dialysis therapy. He was admitted for recurrent episodes of acute joint pain. Investigations confirmed diffuse periarticular, vascular, and intracardiac calcifications which were rarely seen in the young population. He underwent parathyroidectomy and incidentally found to have a co-existing papillary carcinoma of thyroid. After parathyroidectomy, serial X-rays showed resorption of these calcifications.
Hong Kong medical journal = Xianggang yi xue za zhi / Hong Kong Academy of Medicine 04/2013; 19(2):178-81.
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W M But,
M Y Wong,
J C K Chow,
W K Y Chan,
W T Ko,
S P Wu,
M L Wong,
T Y Miu,
W Y Tse,
W W Y Hung,
T W Fan,
C C Shek
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ABSTRACT: Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) is a very rare inherited lysosomal storage disease. We evaluated the efficacy and safety of weekly infusions of recombinant human arylsulfatase B as enzyme replacement therapy for two patients in whom this condition was advanced. The primary outcome variables were the distance walked in a 6-minute walk test, forced vital capacity, and ejection fraction. The secondary outcome variables were the number of stairs climbed in a 3-minute stair climbing test, joint mobility, urinary glycosaminoglycan excretion, auto-continuous positive airway pressure study and liver size. After 24 weeks of treatment, patient A walked 40 m (36%) and patient B walked 66 m (58%) more in the walk test than at baseline. After 48 weeks, in patient A the corresponding improvements were 142 m (129%) in the walk test and 33 stairs (60%) in the 3-minute stair climbing test, and in patient B the respective improvements were 198 m (174%) and 77 stairs (140%). There was a significant decline in urinary glycosaminoglycan excretion and improvement in range of motion of joints in both patients. The auto-continuous positive airway pressure study revealed improvements in patient A, while other efficacy variables remained static. There were no drug-related adverse events or allergic reactions reported during and after the infusions of recombinant human arylsulfatase B. Recombinant human arylsulfatase B significantly improves endurance and reduces urinary glycosaminoglycan excretion. The drug is generally safe and well tolerated.
Hong Kong medical journal = Xianggang yi xue za zhi / Hong Kong Academy of Medicine 08/2011; 17(4):317-24.
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Angel O K Chan, W M But,
K L Ng,
L M Wong,
Y Y Lam,
S C Tiu,
K F Lee,
C Y Lee,
P Y Loung,
Ian R Berry,
Rebecca Brown,
Ruth Charlton,
C W Cheng,
Y C Ho,
W Y Tse,
C C Shek
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ABSTRACT: Congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency (21OHD) is an autosomal recessive disorder due to mutation in the CYP21A2 gene.
To elucidate the genetic basis of 21-hydroxylase-deficient CAH in Hong Kong Chinese patients.
Mutational analysis of the CYP21A2 gene was performed on 35 Hong Kong Chinese patients with 21OHD using direct DNA sequencing and multiplex ligation-dependent probe amplification (MLPA).
The genetic findings of 21 male and 14 female patients are the following: c.293-13A/C>G (intron 2 splice site; 20 alleles), p.I172N (13), p.R356W (7), p.Q318X (4). A total of 20 mutant alleles contained gross deletion/conversion of all or part of the CYP21A2 gene. A novel mutation, c.1367delA (p.D456fs), was detected in one patient. One patient had only a heterozygous mutation detected. Out of 35 patients, 16 would have been incorrectly genotyped if either DNA sequencing or MLPA alone was used for molecular analysis.
The frequency of various mutations in the studied patients differs from those reported in other Asian populations. Gross deletion/conversion accounts for nearly one-third of the genetic defects. Therefore, laboratories must include methods for detecting point mutations as well as gross deletions/conversions to avoid misinterpretation of genotype. Genotyping has increasingly been proven to be a useful tool for supplementing, if not replacing, hormonal profiling for the diagnosis of 21OHD.
Steroids 04/2011; 76(10-11):1057-62. · 2.83 Impact Factor
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ABSTRACT: Cytochrome P450 oxidoreductase deficiency is a recently established autosomal recessive disease characterised by ambiguous genitalia, impaired steroidogenesis, and skeletal malformations, referred to as Antley-Bixler syndrome. Clinical manifestations in affected patients are highly variable. We report on a girl with P450 oxidoreductase deficiency who presented with virilisation at birth. There was transient maternal virilisation during pregnancy as well. She was initially diagnosed with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency and/or aromatase deficiency. At 1 year of age, skeletal abnormalities suggestive of Antley-Bixler syndrome were detected. Molecular analysis of the fibroblast growth factor receptor 2 (FGFR2) gene was normal but POR gene analysis showed that she was homozygous for an R457H missense mutation. The diagnosis, P450 oxidoreductase deficiency, was confirmed. Results of her endocrine studies and urinary steroid profiling are also presented.
Hong Kong medical journal = Xianggang yi xue za zhi / Hong Kong Academy of Medicine 02/2010; 16(1):59-62.
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ABSTRACT: Pompe disease (acid maltase deficiency, glycogen storage disease type II) is a rare progressive autosomal recessive disorder caused by a deficiency of lysosomal hydrolase acid alpha-glucosidase. Historically, infantile-onset Pompe disease presents with cardiomegaly, hepatomegaly, weakness and hypotonia leading to death caused by cardiorespiratory failure in the first year of life. Enzyme replacement therapy has recently become available and has been shown to be effective in prolonging survival and improving respiratory performance. In this article, we report a case of infantile-onset Pompe disease successfully managed with enzyme replacement therapy during the critical period. We would like to highlight the occurrence of sudden cardiac arrest in our patient during the early course of enzyme replacement therapy, which has not been reported before. A novel mutation was also identified in the family.
Hong Kong medical journal = Xianggang yi xue za zhi / Hong Kong Academy of Medicine 12/2009; 15(6):474-7.
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Human Genetics 05/2007; 121(2):289. · 5.07 Impact Factor
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ABSTRACT: We report on a post-renal transplant patient who presented with delayed pubertal development at the age of 15 years. She had a normal female phenotype. Blood analysis showed hypergonadotropic hypogonadism. Her karyotype was 46,XY. DNA analysis showed a heterozygous mutation in the WT1 gene (C to T mutation at position +4 of the splice donor site within intron 9). A diagnosis of Frasier syndrome was made and she underwent laparoscopic gonadectomy. This case illustrates that, while delayed puberty is common in children with chronic illness, clinicians should be particularly aware of the possibility of Frasier syndrome in those with progressive glomerulopathy and delayed puberty. DNA analysis is a useful means of confirming the diagnosis.
Hong Kong medical journal = Xianggang yi xue za zhi / Hong Kong Academy of Medicine 07/2006; 12(3):225-7.
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ABSTRACT: We report the case of a newborn baby with carbamoyl phosphate synthetase deficiency. He presented at 2 weeks of life, deteriorating to a state of hyperammonaemic coma and respiratory failure. Rapid detoxification was successfully achieved by continuous venovenous haemofiltration while a definitive diagnosis and treatment were determined. The ammonia clearance achieved by continuous venovenous haemofiltration was greater than 20 mL/min/m(2), which is superior to that achieved by peritoneal dialysis and arteriovenous haemofiltration in this age-group.
Hong Kong medical journal = Xianggang yi xue za zhi / Hong Kong Academy of Medicine 07/2002; 8(3):207-10.
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ABSTRACT: Glycogen storage disease type la (GSD1a) is an autosomal recessive metabolic disorder caused by a deficiency in glucose-6-phosphatase (G6Pase). We analyzed the G6Pase genes of two unrelated Chinese families with GSD1a. DNA sequencing of all five exons and the exon-intron boundaries revealed a G T transversion at nucleotide 727 (727G-->T) in exon 5, which has previously been reported to cause abnormal splicing. In one family, the subject and her affected sister were confirmed to be homozygous for this mutation and their parents to be heterozygotes. In the other family, the proband was identified to be heterozygous for this mutation, and a novel mutation, the 341delG in exon 2, was identified. This mutation alters the reading frame and creates a stop codon TAA 15 codons downstream from the mutation, resulting in a truncated protein. Family studies revealed that the father was heterozygous for the 727G-->T mutation and that the mother was heterozygous for the 341delG mutation. This is the first time that the 727G T mutation has been found in Chinese patients or outside Japan. Since we only tested two GSD1a families and found 727G-->T in both, we believe that this mutation may also be prevalent in our local Chinese population. To investigate allele frequencies, we screened 385 Chinese healthy volunteers and found two asymptomatic carriers. Our findings suggest that the 727G-->T mutation is indeed prevalent in Hong Kong.
Clinical Genetics 04/1998; 53(3):184-90. · 3.13 Impact Factor
