Nephrocalcinosis tendency does not worsen under burosumab treatment for X-linked hypophosphatemic rickets: a multicenter pediatric study.

Background: X-linked hypophosphatemic rickets (XLH) is associated with uninhibited FGF23 activity, which leads to phosphaturia, hypophosphatemia and depressed active vitamin D (1,25OH2D) levels. Conventional treatment with phosphate supplements and vitamin D analogs may lead to hypercalciuria (HC), nephrocalcinosis (NC) and hyperparathyroidism. We investigated the effects of burosumab treatment, an anti-FGF23 monoclonal antibody recently approved for XLH, on these complications.

Galloway-mowat syndrome 3 (GAMOS3): a novel disease-causing variant in OSGEP gene and expansion of the clinical spectrum.

Introduction: Galloway-Mowat syndrome type 3 (GAMOS3) is a rare genetic disorder with renal and neurological complications caused by pathogenic variants in the OSGEP gene. Here, we report the molecular basis and clinical features in an Iranian family.

Methods: Our proband, a 10-month-old female patient, presented with microcephaly, global developmental delay, lower limb spasticity, facial dysmorphisms, and renal tubulopathy.

An activating CaSR variant with biased signaling reveals a critical residue for Gα11 coupling.

Autosomal dominant hypocalcemia (ADH) is due to enhanced calcium-dependent signaling caused by heterozygous gain-of-function (GOF) variants in the CASR gene (ADH1) or in the GNA11 gene, encoding Gα11 (ADH2). Both ADH1 and ADH2 are associated with hypocalcemia and normal or inappropriately low levels of circulating PTH. ADH1 patients typically manifest hypercalciuria, while ADH2 is associated with short stature in approximately 42% of cases.

Insulin Resistance in Hypercalciuric Calcium Kidney Stone Patients.

Rational & Objective: Diabetes and uric acid kidney stones are strongly associated. Patients with calcium kidney stones also have higher risk of developing diabetes compared with nonkidney stone patients yet this has not been further investigated. We aimed to characterize insulin resistance in calcium kidney stone patients.

Management of autosomal dominant hypocalcemia type 1: Literature review and clinical practice recommendations.

Purpose: Autosomal Dominant Hypocalcemia type 1 (ADH1), caused by gain-of-function variants in the calcium-sensing receptor (CASR), is characterized by a variable degree of hypocalcemia and hypercalciuria with inappropriately low PTH. The clinical spectrum is broad, ranging from being asymptomatic to presenting with severe clinical features of hypocalcemia and end-organ damage such as nephrolithiasis and intracerebral calcifications. Although the underlying pathophysiology is different, ADH1 patients are often managed as patients with 'classical' primary hypoparathyroidism, possibly leading to (exacerbation of) hypercalciuria.

Dent's disease: case series from a single center.

Background: Dent's disease (DD) is a rare X-linked recessive tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis/nephrolithiasis and chronic kidney disease. With this manuscript, we reported three patients diagnosed as DD in our department in the last 10 years and thereby described the genetics, pathophysiology, clinical presentation, course and management of the disease.

Cases: The first case was a male newborn who was consulted to our department after medullary nephrocalcinosis was detected.

Long-term Follow-up of Patients Undergoing Nephrectomy for Urolithiasis.

Purpose: This prospective study aimed to identify risk factors associated with progression to stage 3 chronic kidney disease (CKD) and the occurrence of kidney stone formation or growth following nephrectomy for urolithiasis.

Materials And Methods: From January 2006 to May 2013, patients undergoing nephrectomy for urolithiasis were enrolled. Renal function was assessed using estimated glomerular filtration rate (eGFR) via the Chronic Kidney Disease Epidemiology Collaboration equation, while kidney stone events were detected using computed tomography.

Investigating the Prevalence of Hypercalciuria in Children Aged 2-16 Years With Asymptomatic Microscopic Hematuria in 2020 in Tehran Children's Medical Center.

The prevalence of hypercalciuria in children is 3%-10% globally and up to 35% in the United States. Hypercalciuria in children has many presentations; it causes different metabolic disorders and can negatively affect a child's growth. It also increases the risk of low bone mineral density and urinary tract infections.

Hyperkalaemic acidosis: blood pressure is the diagnostic clue.

Pseudohypoaldosteronism type 2 (PHA2) is a rare inherited condition of altered tubular salt handling. It is characterized by the specific constellation of hyperkalaemic hyporeninemic hypertension, hyperchloremic metabolic acidosis and hypercalciuria. Molecular genetic testing confirms the diagnosis in the majority of cases.

A systematic review on urolithiasis in children with neurological disorders.

Purpose: Advancements in medical treatments and increased access to healthcare have significantly extended the life expectancy of children with neurological disorders. However, this has also led to a higher incidence of secondary health issues, such as nephrolithiasis. This review aims to analyze the risk factors, management, and treatment outcomes for stone disease in children with neurological disorders and focus on specific risk factors such as immobilization, urinary tract infections, and metabolic abnormalities to identify key points in the occurrence of nephrolithiasis.

A Report of Claudin-19 Mutation Causing Nephrocalcinosis and End-Stage Kidney Disease from Iran.

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive disorder that affect children and young adults. Mutation in gene that coding the tight junction proteins Claudin-16 and Claudin-19(CLDN19) is responsible of this rare disorder. Hypomagnesemia, hypercalciuria, kidney failure and visual impairment (in CLDN 19 gene mutation) are the most common presentations of FHHNC.

Between a Rock and a Short Place-The Impact of Nephrolithiasis on Skeletal Growth and Development Across the Lifespan.

Purpose Of Review: The impact of nephrolithiasis on skeletal growth and bone health across the life span of kidney stone formers is reviewed.

Main Findings: Bone disease is an early event among kidney stone formers (SF), with distinct phenotypes according to each age, sex, menopausal status, dietary, hormonal and genetic factors. Nephrolithiasis-associated bone disorder is characterized by reduced bone mineral density (BMD) and histologically discloses low bone formation, high bone resorption and abnormal mineralization.