Hypoparathyroidism and pseudohypoparathyroidism: etiology, laboratory features and complications

ABSTRACT Objectives To identify a clinical profile and laboratory findings of a cohort of hypoparathyroidism patients and determine the prevalence and predictors for renal abnormalities. Materials and methods Data from medical records of five different visits were obtained, focusing on therapeutic doses of calcium and vitamin D, on laboratory tests and renal ultrasonography (USG). Results Fifty-five patients were identified, 42 females and 13 males; mean age of 44.5 and average time of the disease of 11.2 years. The most frequent etiology was post-surgical. Levels of serum calcium and creatinine increased between the first and last visits (p < 0.001 and p < 0.05, respectively); and serum levels of phosphate decreased during the same period (p < 0.001). Out of the 55 patients, 40 had USG, and 10 (25%) presented with kidney calcifications. There was no significant difference in the amount of calcium and vitamin D doses among patients with kidney calcifications and others. No correlation between serum and urinary levels of calcium and the presence of calcification was found. Urinary calcium excretion in 24h was significantly higher in patients with kidney calcification (3.3 mg/kg/d) than in those without calcification (1.8 mg/kg/d) (p < 0.05). Conclusions The reduction of hypocalcemia and hyperphosphatemia suggest an effectiveness of the treatment, and the increase in serum creatinine demonstrates an impairment of renal function during follow-up. Kidney calcifications were prevalent in this cohort, and higher urinary calcium excretion, even if still within the normal range, was associated with development of calcification. These findings suggest that lower rates of urinary calcium excretion should be aimed for in the management of hypoparathyroidism.

Nontyphoidal Salmonella urinary tract infection in a case of hyperparathyroidism and nephrocalcinosis / Infección de las vías urinaria por Salmonella no tifoidea en un caso de hiperparatiroidismo y nefrocalcinosis

Nontyphoidal Salmonella infections often present with self-limited gastroenteritis. Extraintestinal focal infections are uncommon but have high mortality and morbidity. Urinary tract infection caused by nontyphoidal Salmonella is usually associated with structural abnormalities of the urinary tract. Nephrocalcinosis and nephrolithiasis are the major risk factors. Although primary hyperparathyroidism has been reported to increase the risk of nephrocalcinosis and nephrolithiasis, little is known about the association between hyperparathyroidism and Salmonella urinary tract infection. We report the case of a 37-year old man who had a history of primary hyperparathyroidism and bilateral nephrocalcinosis and who developed urinary tract infection. Salmonella Group D was isolated from his urine specimen. Salmonella should be considered as a possible causality organism in patients with primary hyperparathyroidism and nephrocalcinosis who develop urinary tract infection. These patients need to be aware of the potential risks associated with salmonellosis.

Las infecciones por Salmonella no tifoidea se presentan a menudo con gastroenteritis auto-limitada. Las infecciones extra-intestinales focales son poco frecuentes, pero tienen una alta mortalidad y morbilidad. La infección de las vías urinarias causada por la Salmonella no tifoidea se asocia generalmente a anomalías estructurales de las vías urinarias. La nefrocalcinosis y la nefrolitiasis son los principales factores de riesgo. Aunque se ha reportado que el hiperparatiroidismo primario aumenta el riesgo de la nefrocalcinosis y la nefrolitiasis, poco se sabe sobre la asociación entre el hiperparatiroidismo y la infección de las vías urinarias por Salmonella. Damos a conocer aquí el caso de un hombre de 37 años con una historia de hiperparatiroidismo primario y nefrocalcinosis bilateral, que desarrolló una infección de las vías urinarias. La Salmonella del grupo D fue aislada de su muestra de orina. La Salmonella se debe considerar como un posible organismo de causalidad en pacientes con hiperparatiroidismo primario y nefrocalcinosis que desarrollan infección del tracto urinario. Estos pacientes necesitan tomar conciencia de los riesgos potenciales asociados con la salmonellosis.

Congenital glucose–galactose malabsorption: a descriptive study of clinical characteristics and outcome from Western Saudi Arabia

Congenital glucose galactose malabsorption [CGGM] is a rare autosomal recessive disorder caused by a defect in the sodium-coupled transport of glucose and galactose across the intestinal brush border presenting with neonatal diarrhoea. The aim of this study was to report the clinical and laboratory characteristics of patients with CGGM from the Western Saudi Arabia. This is a retrospective review of CGGM patients in three major hospitals in the city of Jeddah, Saudi Arabia, namely King Abdulaziz University Hospital, King Faisal Specialist Hospital and Research Centre, and Maternity Children Hospital in the period between November 2001 and October 2011. Twenty-four patients with CGGM have been described. The median age at diagnosis was 4.5 months. Twelve [50%] were males. Sixteen [66.7%] were Saudi and 8 [33.3%] were non Saudi [5 Arabs and 3 Asians]. Parents of 21 patients were consanguineous. Nine [37.5%] had affected siblings with CGGM. All presented with diarrhoea resulted in dehydration. Hypernatremia was seen in 7 [29.2%] patients, renal tubular acidosis in 4 patients. Renal stones and nephrocalcinosis were detected in 3 [12.5%] patients at 8 months. 12 months and 7 years, respectively. The median follow up was 41.6 months. All but three demonstrated normal weight gain. Five patients reported one or more symptoms of bloating [n = 3], diarrhoea [n = 3] and abdominal pain [n = 1] during follow up. All had normal development and none had neurological complications secondary to dehydration. Early recognition and management of this condition are crucial to prevent consequences of dehydration and death

Electrolyte Imbalances and Nephrocalcinosis in Acute Phosphate Poisoning on Chronic Type 1 Renal Tubular Acidosis due to Sjogren's Syndrome

Although renal calcium crystal deposits (nephrocalcinosis) may occur in acute phosphate poisoning as well as type 1 renal tubular acidosis (RTA), hyperphosphatemic hypocalcemia is common in the former while normocalcemic hypokalemia is typical in the latter. Here, as a unique coexistence of these two seperated clinical entities, we report a 30-yr-old woman presenting with carpal spasm related to hypocalcemia (ionized calcium of 1.90 mM/L) due to acute phosphate poisoning after oral sodium phosphate bowel preparation, which resolved rapidly after calcium gluconate intravenously. Subsequently, type 1 RTA due to Sjogren's syndrome was unveiled by sustained hypokalemia (3.3 to 3.4 mEq/L), persistent alkaline urine pH (> 6.0) despite metabolic acidosis, and medullary nephrocalcinosis. Through this case report, the differential points of nephrocalcinosis and electrolyte imbalances between them are discussed, and focused more on diagnostic tests and managements of type 1 RTA.

The First Korean Case of Lysinuric Protein Intolerance: Presented with Short Stature and Increased Somnolence

Lysinuric protein intolerance (LPI) is a rare inherited metabolic disease, caused by defective transport of dibasic amino acids. Failure to thrive, hepatosplenomegaly, hematological abnormalities, and hyperammonemic crisis are major clinical features. However, there has been no reported Korean patient with LPI as of yet. We recently encountered a 3.7-yr-old Korean girl with LPI and the diagnosis was confirmed by amino acid analyses and the SLC7A7 gene analysis. Her initial chief complaint was short stature below the 3rd percentile and increased somnolence for several months. Hepatosplenomegaly was noted, as were anemia, leukopenia, elevated levels of ferritin and lactate dehydrogenase, and hyperammonemia. Lysine, arginine, and ornithine levels were low in plasma and high in urine. The patient was a homozygote with a splicing site mutation of IVS4+1G > A in the SLC7A7. With the implementation of a low protein diet, sodium benzoate, citrulline and L-carnitine supplementation, anemia, hyperferritinemia, and hyperammonemia were improved, and normal growth velocity was observed.

Primary hyperoxaluria type 1 with a novel mutation.

Primary hyperoxaluria type 1 [PH1] is an autosomal recessive disorder caused by a deficiency of alanine-glyoxylate aminotransferase AGT, which is encoded by the AGXT gene. We report an Indian family with two affected siblings having a novel mutation in the AGXT gene inherited from the parents. The index case progressed to end stage renal disease at 5 months of age. His 4 month old sibling is presently under follow up with preserved renal function.

Subcutaneous fat necrosis with hypercalcemia.

Subcutaneous fat necrosis of the newborn (SCFN) is an uncommon condition and may be complicated by hypercalcemia. A 28-day-old neonate, presenting with SCFN, hypercalcemia and nephrocalcinosis was managed with intravenous saline followed by furosemide, oral prednisolone, potassium citrate and etidronate.

Unusual cause of acute renal failure in infancy.

Acute renal failure due to intratubular obstruction is uncommon in infants. Two infants presenting with acute renal failure associated with acute gastroenteritis were found to have bilateral global nephrocalcinosis secondary to oxalosis.

Nefrocalcinosis en recién nacidos prematuros / Nephrocalcinosis in preterm infants

El objetivo de este estudio es conocer la incidencia de nefrocalcinosis en recién nacidos de pretérmino y determinar la utilidad de la relación calciuria/creatininuria como predictor diagnóstico. Un total de 124 recién nacidos con edad gestacional igual o menor a 32 semanas fueron agrupados en dos categorías. Un grupo de estudio de 53 pacientes con factores de riesgo conocidos para el desarrollo de nefrocalcinosis (oxigenoterapia, uso de furosemida y nutrición parenteral prolongadas) y un grupo control de 71 pacientes sin factores de riesgo. Ambos fueron estudiados por índice calciuria/creatininuria (muestras aisladas de orina los días 15, 21 y 30 de vida). Se definió hipercalciuria como un valor igual o mayor a 0,5 de índice calciuria/creatininuria presente al menos en dos muestras aisladas de orina. Se realizó estudio ecográfico entre los dos y tres meses de vida. El 15,3 por ciento de los pacintes presentó nefrocalcinosis. El grupo con factores de riesgo presenta 35,8 por ciento de nefrocalcinosis y los valores de calciuria/creatininuria fueron 0,87, 0,96 y 1,04. En el grupo control de valores de calciuria/creatininuria fueron 0,37, 0,30 y 0,29 no presentando casos de nefrocalcinosis. La diferencia entre ambos grupos es estadísticamente significativa (p<0,01). La presencia de hipercalciuria se relaciona con el diagnóstico de nefrocalcinosis, presentando valor predictivo positivo de 38 por ciento y valor predictivo negativo de 100 por ciento. La incidencia de nefrocalcinosis es comparable con series clínicas publicadas. Parece adecuado el estudio de pacientes con factores de riesgo por medio de calciuria/creatininuria realizando seguimiento ecográfico de pacientes con hipercalciuria

Acidosis tubular renal distal y litiasis renal en tres casos de síndrome de Sjögren primario / Distal renal tubular acidosis and renal lithiasis in 3 cases of primary Sjögren's syndrome

Tubulo interstitial nephritis, the main manifestation of renal involvement in Sjögren syndrome, may lead to a tubular dysfunction that is usually subclinical. We report 3 women, aged 32, 35 and 35 years old, with a primary Sjögren's syndrome and symptomatic type I or distal tubular acidosis. Two patients had nephrolithiasis and one a nephrocalcinosis. Two had a basal hyperchloremic metabolic acidosis. The ammonium chloride acidification test was abnormal in all, demonstrating a distal tubular defect. None had proximal tubular dysfunction. All had an urinary pH over 6.5 and hypocitraturia and none had hypercalciuria. Renal calculi were composed of calcium oxalate and calcium phosphate in 2 patients and calcium phosphate and ammonium phosphate in the other. All women had positive antinuclear antibodies with mottled pattern, 2 had anti Ro antibodies and positive rheumatoid factor and 1 had hypergammaglobulinemia. None had anti La antibodies, crioglobulinemia or monoclonal proteins