• Clinical and Experimental Pediatrics
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• v.46 no.10
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• pp.1032-1035
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• 2003

In pseudohypoparathyroidism as reported by Albright in 1942, the parathyroid gland can normally synthesize and secrete parathyroid hormone(PTH). Pseudohypoparathyroidism has a similar biochemical finding with hypoparathyroidisms like hypocalcemia and hyperphosphatemia due to target tissue resistance to PTH. Administered PTH does not raise the serum levels of calcium and urinary phosphate. PTH activates G-protein in peripheral tissue and adenylate cyclase through a second messenger, cAMP. Pseudohypoparathyroidism produces hyperphosphatemia and hypocalcemia because of the resistance to PTH in peripheral tissue due to a defect of G-protein, although it releases PTH normally. According to the mechanism of resistance, pseudohypoparathyroidism is classified into types : Ia, Ib, Ic and psedopseudohypoparathyroism. Type Ia is accompanied by congenital growth retardation and abnormal bony development that shows mental retardation, obesity, low height, round face, short metacarpal bone and metatarsal bone, ectopic calcification, etc. We report a case of pseudohypoparathyroidism in a premature who shows hypocalcemia, hyperphosphatemia, elevation of serum PTH and 24 hr urinary basal c-AMP in biochemical tests without Albright's hereditary osteodystrophy at physical examination, accompanied by a spontaneous fracture in the femur.

• Journal of Veterinary Clinics
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• v.26 no.6
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• pp.655-658
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• 2009

An 11-year-old, female, Maltese dog was presented with abdominal distension and intermittent slight lameness on left hindlimb. Palpable abdominal pain and purulent vaginal discharge were observed on physical examination. Severe leukopenia with toxic change, and azotemia, hyperphosphatemia, and hyponatremia were identified on blood profile. On radiographs and abdominal sonograms, remarkable soft tissue mass containing echogenic material deviating intestines craniodorsally compatible with pyometra. On stifle radiographs, 4-5 fragmented sesamoid bone (fabella) was identified on both stifle joint with medial patella luxation. Immediate ovariohysterectomy was performed and the patient was recovered well with normal blood work. No specific treatment was attempted to the left hindlimb showing minimal and intermittent lameness. No remarkable abnormal gait was reported for 3-month follow-up period. The fragmented lateral fabella is considered congenital multipartite of lateral fabella not related to the lameness.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.2
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• pp.44-49
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• 2020

Pseudohypoparathyroidism (PHP) is a disorder characterized by hypocalcemia and hyperphosphatemia due to end organ resistance to parathyroid hormone. PHP is caused by the deficiency of the α-subunit of the stimulatory G protein encoded by the GNAS gene, and this defect arises from genetic or imprinting disturbances. Sporadic PHP 1b shows two or more methylation defects of upstream of GNAS gene and some of them lead to loss of maternal GNAS imprints, therefore, only paternally derived GNAS gene is expressed. Here, we report a 10 year 9 month old boy presented with intermittent tetany who was finally diagnosed with PHP 1b caused by paternal uniparental disomy of chromosome 20q.

• The Journal of the Korean bone and joint tumor society
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• v.3 no.2
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• pp.127-130
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• 1997

Tumoral calcinosis is a rare disorder of unknown etiology, which is characterized by the developement of large calcified masses overlying the large joints in otherwise healthy subjects. If histologic tests are not confirmed, the condition may be treated erroneously as bursitis. This report describes the case of a 10-year-old man with tumoral calcinosis of the knee, a joint very rarely affected by this unusual disorder. Microscopically the tumor consists of a stroma of chronic inflammatory tissue surrounding cystic spaces containing calcium-rich material. We made excision alone, and the patient made an uneventful recovery with no evidence of recurrence up to 13 months postoperatively.

• Childhood Kidney Diseases
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• v.11 no.2
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• pp.239-246
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• 2007

Purpose : The progressive deterioration of renal function in children can impose a serious and lifelong impact on their lives. The ultimate goal in the management of children with chronic kidney disease(CKD) is to prolong survival, to prevent complications, and to promote growth and neurodevelopment. The aim of this study is to investigate the risk factors for the decline of renal function in pediatric CKD patients. Methods : Data from patients who met the criteria for the Kidney Disease Outcomes Quality Initiative(K/DOQI) CKD stage 2 to 4 between August 1999 and March 2007 were retrospectively analyzed. The estimated glomerular filtration rate(eGFR) was calculated by the Schwartz formula, using serum creatinine levels and height. We calculated the annual eGFR change from the difference between the baseline eGFR and the last eGFR divided by the duration(years) of the follow-up period. We analyzed the association between the annual eGFR change and factors such as age, gender, K/DOQI stage, underlying renal disease, serum calcium, and inorganic phosphorous during the follow-up period. Results : Sixty one children(44 boys & 17 girls) were enrolled. The age at entry was $7.1{\pm}4.7$ years. The annual eGFR change was $-1.2{\pm}11.9 mL/min/1.73m^2/year$. Our study showed that older age(P=0.005). hypocalcemia(P=0.012), and hypenhosphatemia(P=0.002) were significantly related to more rapid decline in renal function. Conclusion : In pediatric CKD, older age, hypocalcemia and hyperphosphatemia are related to more rapid deterioration of renal function.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.10 no.2
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• pp.173-178
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• 2007

Purpose: This study was conducted to analyze the clinical manifestation and natural course of benign transient hyperphosphatasemia (BTH) in children. Methods: A total of 17 children diagnosed with BTH between June 2006 and July 2007, were included in this study. Clinical records and laboratory tests were analyzed retrospectively for all children. Results: The mean age of the patients was $26.9{\pm}13.8$ months (range: 9 to 49 months). Nine of the 17 BTH cases (52.9%) occurred in patients that had previously suffered from infectious diseases. While the patients were suffering from BTH, the mean serum level of alkaline phosphatase (ALP) was $2,500.2{\pm}1,165.1$ U/L, however, these elevated serum ALP levels normalized within 7 weeks of recovery in all cases. In addition, a seasonal peak in the onset of BTH was observed from September to December. Further, the measurement of ALP isoenzymes in 7 of the patients with BTH, revealed a marked elevation of bone fraction. Conclusion: It is important for pediatricians to understand the clinical manifestation and benign course of BTH to avoid unnecessary diagnostic evaluation in children showing a transient increase in ALP activities.

• Journal of Nutrition and Health
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• v.47 no.1
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• pp.33-44
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• 2014

Purpose: Elevated serum phosphorus and potassium levels are a major problem for hemodialysis (HD) patients. Hyperphosphatemia and hyperkalemia are closely related to intake of dietary phosphorus and potassium. Methods: This study was conducted in order to investigate the effects of food consumed on serum phosphorus and potassium levels in 48 HD patients (20 males and 28 females). We collected anthropometric data, biochemical parameters, and dietary data of the subjects. Dietary data for usual intake were obtained by use of a food-frequency questionnaire (FFQ) consisting of 21 food items. Results: The mean body mass index (BMI) was $22.2{\pm}3.0kg/m^2$, mean serum phosphorus level was $4.50{\pm}1.52mg/dl$, and mean serum potassium level was $4.74{\pm}0.73mEq/l$. Hyperphosphatemia (> 4.5 mg/dl) was found in 45.8% of subjects, and hyperkalemia (> 5.0 mEq/l) in 35.4%. Subjects who took medication only were 56% of total, and those who took medication with dietary therapy were 27%. Patients with medication and dietary therapy showed significantly lower serum phosphorus levels compared to patients with medication only (p < 0.05). Mean duration of HD was $7.9{\pm}7.3$ years and it showed positive correlation with serum potassium levels (p < 0.05). Serum phosphorus levels showed positive correlation with intake of mixed grains and soybean milk (p < 0.05). Serum potassium levels showed positive correlation with intake of mixed grains (p < 0.01), potatoes, fish, and high-potassium vegetables (p < 0.05). On the other hand, intake of white rice showed negative correlation with serum potassium levels (p < 0.05). Conclusion: The results of our study suggest that intake of white rice rather than mixed grains is an important factor in sustaining normal serum phosphorus and potassium levels. In addition, limiting intake of soybean milk, potatoes, and fish to under three serving per week is recommended. Finally, conduct of a strict dietary therapy along with medical treatment is desirable because inappropriate food intake increases serum phosphorus and potassium levels to a higher than normal range.