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We report the case of a girl with a history of seizures associated with severe and persistent hypermagnesemia, hypocalcemia, hypercalciuria, metabolic acidosis, nephrocalcinosis, and progressive renal function deterioration leading to chronic renal failure stage 5 (ESCRD). A familial history of chronic renal disease, renal lithiasis, and paternal consanguinity prompted a genetic study identifying a pathogenic mutation in homozygosis c.446 G>A (p.R149Q) located in the exon 3 of the gen CLDN16 confirming the diagnosis of familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) with no severe ocular defects. The post-renal transplant is presented, showing good survival of the graft. [ABSTRACT FROM AUTHOR]

Amelogenesis Imperfecta (AI) is an alteration of the structure and appearance of dental enamel of genetic origin that can occur as an isolated or systemic defect. The Amelogenesis Imperfecta-Nefrocalcinosis Syndrome (OMIM # 204690), also known as Enamel-Renal Syndrome (ERS), is characterized by the presence of hypoplastic AI, gingival hyperplasia with ectopic mineralization, delayed tooth eruption and Nephrocalcinosis. This syndrome is associated with autosomal recessive mutations of the FAM20A gene. The aim of this review is to present the clinical and phenotypic characteristics of patients with the Amelogenesis Imperfecta-Nefrocalcinosis Syndrome. The material was obtained through an online search of MEDLINE database (PubMed), EBSCO-Host and Scopus (ScienceDirect). The results confirm the low frequency of clinical cases reported with Syndrome Amelogenesis Imperfecta-Nefrocalcinosis. The clinical and phenotypic characteristics were exposed in a clear, simple and precise way. It is recommended to general dentists and pediatric dentists that, when diagnosing an AI, particularly of hypoplastic type, they perform a detailed personal-family medical history and contemplate an interconsultation with the nephrology service that allows to diagnose or monitor the patient's renal status in a preventive style. [ABSTRACT FROM AUTHOR]

Renal tubulopathies are hereditary diseases due to mutations on genes that codify transport proteins for specific elements, resulting in a variety of alterations. Michelis-Castrillo syndrome is a rare renal tubulopathie where alterations in claudins 16 and 19, two tight junction proteins located in the thick ascending loop of Henle and involved in the transport of the dibasic ions calcium and magnesium resulting in hypercalciuria, hypermagnesuria with nephrocalcinosis and renal chronic insufficiency. We report an unborn baby girl in whom nephrocalcinosis was detected in an ultrasound performed to the gravid mother and due to the presence of placental calci- fication and placental insufficiency it was decided to interrupt the pregnancy. As newborn diagnosis and treatment were established, we report initial findings, differential diagnosis, established therapy and follow up for five years and review of the recent literature. [ABSTRACT FROM AUTHOR]

The term renal tubular acidosis (RTA) refers to a group of clinical entities in which normal anion gap hyperchloremic metabolic acidosis occurs as a result of defective transport of the proximal tubular reabsorption of bicarbonate (proximal RTA or type 2), the distal secretion of hydrogen ions (distal RTA or type 1), or hyperkalemic RTA or type 4. These RTA types can be inherited or acquired. Primary forms of proximal RTA are extremely rare with the majority of cases in children being found in the context of Fanconi syndrome. Primary distal RTA is the most common distal RTA found in children. Hyperkalemic RTA is found together with aldosterone deficiency or aldosterone resistance, which cause hyperkalemia, low synthesis and low levels of urinary ammonium and salts and titratable acids. RTA may manifest in early infancy with vomiting, polyuria and polydipsia, dehydration crisis, failure to thrive and growth retardation. Children with distal RTA may present with nephrocalcinosis. Long-term treatment with alkalizing solutions (citrate or bicarbonate with sodium and potassium) to maintain normal values of serum bicarbonate concentration induces catch-up growth, corrects the electrolyte abnormalities of the different types of RTA (hypocitraturia, hypercalciuria) and arrests progressive nephrocalcinosis in patients with distal RTA. [ABSTRACT FROM AUTHOR]

A 15-year-old boy with story of recurrent kidney stones which began since 2 years old. He developed progressive renal failure and for the past 3 years he had required hemodialysis. Six months ago he developed oligoarthritis and anemia. On physical examination there was hepatosplenomegaly with lymphadenopathy. Laboratory studies showed pancytopenia, hemoglobin level of 7.3 gr/dL, white blood cell count of 2,600/ mm³, and platelet count of 123,000/mm³. Values of serum GOT, GPT and bilirubin were normal. Ultrasound scan of abdomen revealed atrophic, heavily calcified kidneys and X rays showed nephrocalcinosis. Bone biopsy revealed extensive crystal deposition arranged in a radial pattern, with almost complete obliteration of hematopoietic ceils with variable number of multinucleated cells and moderate fibrosis. Bone marrow aspirate did not show any calcium oxalate crystals. We review primary hyperoxaluria and underscore the importance of recognizing the disease as cause of renal failure, in a patient with clinical history of renal stones and nephrocalcinosis. [ABSTRACT FROM AUTHOR]