nephrocalcinosis/vemšana

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Lappuse 1 no 49 rezultātiem

Hashimoto Thyroiditis and Nephrocalcinosis in a Child with Down Syndrome.

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Ielogoties Reģistrēties

BACKGROUND Hypothyroidism has been reported to affect renal function and structure. However, the association of hypothyroidism with distal renal tubular acidosis (dRTA) is rarely reported in children. METHODS We present a 6-year-boy with Down syndrome admitted in our department due to vomiting,

Hypomagnesemia with Hypercalciuria Leading to Nephrocalcinosis, Amelogenesis Imperfecta, and Short Stature in a Child Carrying a Homozygous Deletion in the CLDN16 Gene

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Ielogoties Reģistrēties

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive disease caused by mutations in the CLDN16 or CLDN19 gene; however, few cases develop classical amelogenesis imperfecta. Herein, we report the case of a boy with early clinical renal manifestations

A hypokalaemic woman with nephrocalcinosis: rebirth of old knowledge.

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Ielogoties Reģistrēties

The coexistence of hypokalaemia and nephrocalcinosis poses a challenge in rapid diagnosis and appropriate management. We describe a 38-year-old woman who presented with thirst, intermittent carpopedal spasm, paresthaesia of both hands and progressive weakness of lower extremities for two years. She

Concurrent septic arthritis and urinary tract infection in a patient with nephrocalcinosis and vesicoureteral reflux.

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Ielogoties Reģistrēties

An eight-month-old boy who presented with a 15-day history of vomiting was revealed to be suffering from urinary tract infection and nephrocalcinosis caused by vitamin D intoxication. During the treatment of vitamin D intoxication (alendronate, 5 mg/day), he developed urinary tract infection and

Primary Hyperoxaluria Type 1: A Cause for Infantile Renal Failure and Massive Nephrocalcinosis.

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Ielogoties Reģistrēties

Primary hyperoxaluria type 1 is a rare autosomal-recessive disease caused by the deficient activity of the liver specific enzyme alanine-glyoxylate aminotransferase. Increased endogenous oxalate production induces severe hyperoxaluria, recurrent urolithiasis, progressive nephrocalcinosis and renal

A case of primary hyperparathyroidism with hypercalcemic nephropathy in children.

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Ielogoties Reģistrēties

Primary hyperparathyroidism is a rare disease in children and is characterized by conspicuous skeletal and renal changes. A 12 year old male patient presented with symptoms of polydipsia, polyuria, general weakness, nausea, and vomiting which had begun 3 months earlier, and showed typical laboratory

[Severe hypercalcemia as a complication of intensive treatment for osteoporosis due to steroid therpay in 17-year-old girl with the nephrotic syndrome].

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Ielogoties Reģistrēties

In the article, 17-year-old girl with iatrogenic severe hipercalcemia was presented. The girl was treated since the age of 12 years for steroid-sensitive minimal change disease. Due to steroid therapy osteoporosis developed and intensive treatment with active form of vitamin D and high doses of

Hereditary renal tubular disorders in Turkey: demographic, clinical, and laboratory features.

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Ielogoties Reģistrēties

BACKGROUND The Turkish Renal Tubular Disorders Working Group aimed to form a patient registry database and gathered demographic, clinical, and laboratory data in various hereditary renal tubular disorders (HRTDs). METHODS A questionnaire comprising HRTDs was sent to the centers. The cohort was

Hypervitaminosis A causing hypercalcemia in cystic fibrosis. Case report and focused review.

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Ielogoties Reģistrēties

Hypercalcemia is a rare complication of hypervitaminosis A. We report a pediatric patient with cystic fibrosis (CF) and pancreatic insufficiency who was found to have hypervitaminosis A causing hypercalcemia, complicated by nephrocalcinosis and renal impairment. The patient is a 4-year-old girl with

[Distal hereditary renal tubular acidosis, diagnosis in siblings: About 2 pediatric cases].

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Ielogoties Reģistrēties

Distal renal tubular acidosis is the most common type of renal tubular acidosis in pediatrics and can be hereditary. It is due to an inability in the kidney to excrete hydrogen ion (H+), in the absence of deterioration of renal function, and it is accompanied by hyperchloremic metabolic acidosis

Williams syndrome with severe hypercalcaemia.

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Ielogoties Reģistrēties

We present an 11-month-old girl child with complaints of constipation, cough, fever, vomiting and growth retardation. On examination, she had facial dysmorphism, hypertension and murmur. The genetic evaluation showed 7q microdeletion specific to Williams syndrome. Abdominal imaging was suggestive of

Vitamin D Toxicity: A Prospective Study from a Tertiary Care Centre in Kashmir Valley.

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Ielogoties Reģistrēties

Vitamin D toxicity (VDT), a "not uncommon" cause of hypercalcemia, can be life-threatening and cause substantial morbidity, if not treated promptly.To describe presentation, management, and outcome in 32 patients with VDT diagnosed over 3

Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus.

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Ielogoties Reģistrēties

Bartter syndrome (BS) type 1 (OMIM #601678) is a hereditary salt-losing renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, polyuria, recurrent vomiting, and growth retardation. It is caused by loss-of-function mutations of the SLC12A1 gene,

Refractory rickets caused by mild distal renal tubular acidosis.

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Ielogoties Reģistrēties

Type I (distal) renal tubular acidosis (RTA) is a disorder associated with the failure to excrete hydrogen ions from the distal renal tubule. It is characterized by hyperchloremic metabolic acidosis, an abnormal increase in urine pH, reduced urinary excretion of ammonium and bicarbonate ions, and

Renal failure due to acute phosphate nephropathy.

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Ielogoties Reģistrēties

Case report of a 62-year-old woman who developed acute renal failure due to nephrocalcinosis, also called acute phosphate nephropathy, after large bowel cleansing in preparation for colonoscopy using oral sodium phosphate solution (Phosphoral, de Witt, Cheshire, UK). Subsequently her renal

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