Renal Medullary Nephrocalcinosis

2021 ◽  
Author(s):  
Ty Mattinson ◽  
Jennifer Ledezma Dominguez, ARRT ◽  
Jonathan Revels, DO
Keyword(s):  
Medullary Nephrocalcinosis

THE NUCLEAR FACTOR OF HEPATOCYTES 1β (HNF1β)–ASSOCIATED DISEASE. CLINIC, DIAGNOSTIC, TREATMENT (LITERATURE REVIEW AND CLINICAL OBSERVATION)

2019 ◽  
Vol 23 (2) ◽  
pp. 100-108
Author(s):  
S. V. Papizh ◽  
O. R. Piruzieva
Keyword(s):  
Sanger Sequencing ◽  
Clinical Observation ◽  
Liver Enzymes ◽  
Renal Ultrasound ◽  
Nuclear Factor ◽  
Hepatocyte Nuclear Factor ◽  
Renal Hypoplasia ◽  
Unilateral Renal Agenesis ◽  
Elevated Liver Enzymes ◽  
Medullary Nephrocalcinosis

Hepatocyte nuclear factor 1β (HNF1β)-associated disease is a rare autosomal dominant disease caused by various mutations in the HNF1β gene coding the hepatocyte nuclear factor 1β. HNF1β is a transcription factor that is critical for the development of kidney urogenital tract, pancreas, liver, brain, and parathyroid gland. Renal phenotype or HNF1β- nephropathy appeared to be extremely heterogenic: multicystic renal dysplasia, renal hypoplasia, unilateral renal agenesis, horseshoe kidney, atypical familial juvenile hyperuricemic nephropathy, urinary tract malformations and tubular dysfunction. Extrarenal phenotype of HNF1β-associated disease could be maturity-onset diabetes of the young (MODY), pancreatic atrophy and exocrine pancreatic dysfunction, elevated liver enzymes, neonatal cholestasis, congenital abnormalities of the genital tract, hyperparathyroidism, neurological symptoms. The multisystem phenotype makes clinical verification of the diagnosis extremely difficult. In this article, we present a clinical observation of a child with HNF1β – associated disease. The first clinical presentation of HNF1β-associated disease was ultrasound changes in the kidneys (hyperechogenic kidneys?), which were detected by prenatal ultrasonography in pregnancy. Renal ultrasound revealed polycystic kidney disease in the first days of life and bilateral medullary nephrocalcinosis by the age of three. The clinical examination showed a reduced renal function and developed Fanconi syndrome (glycosuria, low molecular proteinuria, hypophosphatemia, aminoaciduria, hyperuricosuria) in the first year of life. Also the child had a non-constant asymptomatic elevation of liver enzymes, hyperparathyroidism, osteoporosis. The diagnosis was confirmed by the results of next generation sequencing which revealed novel heterozygous mutation in exon 4 of the HNF1b gene (chr17: 36091813C>T), p.Cys273Tyr (c.818G>A). The identified mutation was validated by Sanger sequencing. Validation by Sanger sequencing did not reveal a chr17: 36091813C>T mutation in parents, which suggested the appearance of a mutation in the child de novo.

Juvenile dermatomyositis: a case of delayed recognition with unusual complication of nephrocalcinosis

2021 ◽  
Vol 14 (4) ◽  
pp. e241152
Author(s):  
Geminiganesan Sangeetha ◽  
Divya Dhanabal ◽  
Saktipriya Mouttou Prebagarane ◽  
Mahesh Janarthanan
Keyword(s):  
Muscle Weakness ◽  
Juvenile Dermatomyositis ◽  
Inflammatory Myopathy ◽  
Unusual Complication ◽  
Ultrasound Screening ◽  
Proximal Muscle Weakness ◽  
Proximal Muscle ◽  
Calcinosis Cutis ◽  
First Case ◽  
Medullary Nephrocalcinosis

Juvenile dermatomyositis (JDM) is the most common inflammatory myopathy in children and is characterised by the presence of proximal muscle weakness, heliotrope dermatitis, Gottron’s papules and occasionally auto antibodies. The disease primarily affects skin and muscles, but can also affect other organs. Renal manifestations though common in autoimmune conditions like lupus are rare in JDM. We describe a child whose presenting complaint was extensive calcinosis cutis. Subtle features of proximal muscle weakness were detected on examination. MRI of thighs and a muscle biopsy confirmed myositis. Nephrocalcinosis was found during routine ultrasound screening. We report the first case of a child presenting with rare association of dermatomyositis, calcinosis cutis and bilateral medullary nephrocalcinosis.

scholarly journals Medullary Nephrocalcinosis in a Furosemide Abuser

2017 ◽  
Vol 56 (2) ◽  
pp. 233-233 ◽  
Author(s):  
Nobutaka Hirooka ◽  
Mai Tahara ◽  
Koichi Takebayashi
Keyword(s):  
Medullary Nephrocalcinosis

scholarly journals Medullary nephrocalcinosis in an adult patient with idiopathic infantile hypercalcaemia and a novel CYP24A1 mutation

2013 ◽  
Vol 6 (2) ◽  
pp. 211-215 ◽  
Author(s):  
E. Meusburger ◽  
A. Mundlein ◽  
E. Zitt ◽  
B. Obermayer-Pietsch ◽  
D. Kotzot ◽  
...  
Keyword(s):  
Adult Patient ◽  
Medullary Nephrocalcinosis ◽  
Idiopathic Infantile Hypercalcaemia

scholarly journals Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) Presenting with Genu Valgum Deformity: Treatment with Phosphate Supplementation and Surgical Correction

2020 ◽  
Vol 2020 ◽  
pp. 1-7
Author(s):  
Juan M. Colazo ◽  
Seth A. Reasoner ◽  
Ginger Holt ◽  
Marie C. M. Faugere ◽  
Kathryn M. Dahir
Keyword(s):  
Bone Biopsy ◽  
Fibroblast Growth Factor 23 ◽  
Missense Variant ◽  
Genu Valgum ◽  
Surgical Correction ◽  
Hypophosphatemic Rickets ◽  
Renal Ultrasound ◽  
Medullary Nephrocalcinosis ◽  
History Of ◽  
Uptake Studies

We describe a case of hereditary hypophosphatemic rickets with hypercalciuria (HHRH) in a 32-year-old female with short stature, chronic pathologic genu valgum deformity, and knee pain who was referred to endocrinology clinic after previous inconclusive workups. We present imaging spanning 10 years of untreated disease. Biochemical studies showed hypophosphatemia with undetectable fibroblast growth factor 23 (FGF23.) Renal ultrasound revealed bilateral medullary nephrocalcinosis despite no apparent hypercalciuria. Due to concern for HHRH, genetic testing was performed that determined this patient to be homozygous in the SLC34A3 gene for a previously described missense variant (c.1402C > T, p.Arg468Trp). There was no known family history of rickets. A bone biopsy with metabolic studies was performed for diagnostic and prognostic reasons. The histopathological findings along with tetracycline uptake studies were consistent with a diagnosis of HHRH. Treatment with phosphorous supplementation and surgical correction of her valgum deformity resulted in resolution of pain, but no change in bone histomorphometry.

Medullary nephrocalcinosis associated with vesicoureteral reflux.

1997 ◽  
Vol 70 (836) ◽  
pp. 850-851 ◽  
Author(s):  
L Oğuzkurt ◽  
N Karabulut ◽  
M Haliloğlu ◽  
B Unal
Keyword(s):  
Vesicoureteral Reflux ◽  
Medullary Nephrocalcinosis

scholarly journals P04.51: Unusual sonographic appearance of autosomal recessive polycystic kidney resembling medullary nephrocalcinosis

2005 ◽  
Vol 26 (4) ◽  
pp. 409-409
Author(s):  
M. Okumura ◽  
V. Bunduki ◽  
C. Shiang ◽  
R. Schultz ◽  
M. Zugaib
Keyword(s):  
Autosomal Recessive ◽  
Polycystic Kidney ◽  
Sonographic Appearance ◽  
Medullary Nephrocalcinosis

Resolution of medullary nephrocalcinosis in children with metabolic bone disorders

2005 ◽  
Vol 20 (8) ◽  
pp. 1143-1145 ◽  
Author(s):  
Ari Auron ◽  
Uri S. Alon
Keyword(s):  
Bone Disorders ◽  
Metabolic Bone ◽  
Medullary Nephrocalcinosis

Medullary nephrocalcinosis in a pediatric patient: question

2009 ◽  
Vol 25 (8) ◽  
pp. 1429-1430
Author(s):  
F. Şemsa Altugan ◽  
Z. Birsin Özçakar ◽  
Suat Fitöz ◽  
Arzu Ensari ◽  
Mesiha Ekim ◽  
...  
Keyword(s):  
Pediatric Patient ◽  
Medullary Nephrocalcinosis

Medullary Nephrocalcinosis: Sonographic Evaluation

1982 ◽  
Vol 127 (6) ◽  
pp. 1252-1252
Author(s):  
G.M. Glazer ◽  
P.W. Callen ◽  
R.A. Filly
Keyword(s):  
Sonographic Evaluation ◽  
Medullary Nephrocalcinosis
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