Steroid-resistant nephrotic syndrome (SRNS) has long been a challenge for clinicians due to its poor responsiveness to immunosuppressants, and rapid progression to end-stage renal disease. Identifying a monogenic cause for SRNS may lead to a better understanding of podocyte structure and function in the glomerular filtration barrier. This review focuses on genes associated with slit diaphragm, actin cytoskeleton, transcription factors, nucleus, glomerular basement membrane, mitochondria, and other proteins that affect podocyte biology.
Actin Cytoskeleton ; Biology ; Diaphragm ; Glomerular Basement Membrane ; Glomerular Filtration Barrier ; Immunosuppressive Agents ; Kidney Failure, Chronic ; Mitochondria ; Nephrotic Syndrome ; Podocytes ; Proteinuria ; Transcription Factors

Enuresis is intermittent urinary incontinence during sleep at night in children aged 5 years or older. The main pathophysiology of enuresis involves nocturnal polyuria, abnormal sleep arousal, and low functional bladder capacity. In rare cases, enuresis is an early symptom of endocrine disorders such as diabetes or thyroid disorders. Herein, we report a case of a 12-year-old girl with enuresis as a rare initial presentation of Graves’ disease. She complained of nocturnal enuresis from a month before visiting our clinic. She also complained of urinary frequency, headache, and weight loss. On physical examination, she had tachycardia, intention tremors, and a diffuse goiter on her anterior neck with bruit on auscultation. Her thyroid function test results revealed hyperthyroidism, and Graves’ disease was diagnosed as the thyroid stimulating hormone receptor autoantibody was positive. After treatment for Graves’ disease with methimazole, symptoms of enuresis resolved within 2 weeks as she became clinically and biochemically euthyroid. In children with secondary enuresis, Graves’ disease should be considered as a differential diagnosis, and signs of hyperthyroidism should be checked for carefully.

Enuresis is intermittent urinary incontinence during sleep at night in children aged 5 years or older. The main pathophysiology of enuresis involves nocturnal polyuria, abnormal sleep arousal, and low functional bladder capacity. In rare cases, enuresis is an early symptom of endocrine disorders such as diabetes or thyroid disorders. Herein, we report a case of a 12-year-old girl with enuresis as a rare initial presentation of Graves’ disease. She complained of nocturnal enuresis from a month before visiting our clinic. She also complained of urinary frequency, headache, and weight loss. On physical examination, she had tachycardia, intention tremors, and a diffuse goiter on her anterior neck with bruit on auscultation. Her thyroid function test results revealed hyperthyroidism, and Graves’ disease was diagnosed as the thyroid stimulating hormone receptor autoantibody was positive. After treatment for Graves’ disease with methimazole, symptoms of enuresis resolved within 2 weeks as she became clinically and biochemically euthyroid. In children with secondary enuresis, Graves’ disease should be considered as a differential diagnosis, and signs of hyperthyroidism should be checked for carefully.

Nutcracker syndrome (NCS) is a disease caused by compression of the left renal vein between the superior mesenteric artery and the abdominal aorta. Immunoglobulin A (IgA) nephropathy (IgAN) is characterized by the predominance of IgA deposits in the glomerular mesangial area. Hematuria and proteinuria can be present in both diseases, and some patients can be concurrently diagnosed with NCS and IgAN; however, a causal relationship between the two diseases has not yet been clarified. Here, we report two pediatric cases of NCS combined with IgAN. The first patient presenting with microscopic hematuria and proteinuria was diagnosed with NCS at the initial visit, and the second patient was later diagnosed with NCS when proteinuria worsened. Both patients were diagnosed with IgAN based on kidney biopsy findings and treated with angiotensin-converting enzyme inhibitors and immunosuppressants. A high index of suspicion and timely imaging or biopsy are essential for the proper management of NCS combined with glomerulopathy.

Pigmentary demarcation lines are abrupt transition lines between the areas of deeper pigmentation and the areas of lighter, normal pigmentation. Type B pigmentary demarcation lines involve the posterior medial portion of the lower extremities and are more commonly associated with pregnancy. We present a case of pigmentary demarcation lines of pregnancy with erythematous changes, involving both the anterior and posterior aspects of the lower extremities.
Erythema ; Knee ; Lower Extremity ; Pigmentation ; Pregnancy ; Thigh

No abstract available.
Capillaries ; Nails

No abstract available.
Carcinoma, Hepatocellular ; Neoplasm Metastasis ; Skin

No abstract available.
Carcinoma, Hepatocellular ; Neoplasm Metastasis ; Skin

Adequate fluid management is an important therapeutic goal of dialysis. Recently, bioelectrical impedance methods have been used to determine body fluid status, but pediatric reports are rare. To determine the accuracy of bioelectrical impedance methods in the assessment of body fluid statusof children undergoing hemodialysis (HD), 12 children on HD were studied. A multi-frequency bioimpedance analysis device (Inbody S10) and bioimpedance spectroscopy device (BCM) were used to evaluate fluid status. Fluid removal during a HD session (assessed as body-weight change, ΔBWt) was compared with the difference in total body water determined by each device (measured fluid difference, ΔMF), which showed strong correlation using either method (Pearson's coefficient, r = 0.772 with Inbody S10 vs. 0.799 with BCM). Bioimpedance measurement indicated fluid overload (FO; ΔHS greater than 7%) in 34.8% with Inbody S10 and 56.5% with BCM, and only about 60% of children with FO by bioimpedance methods showed clinical symptoms such as hypertension and edema. In some patients with larger weight gain Inbody S10-assessed overhydration (OH) was much smaller than BCM-assessed OH, suggesting that BCM is more relevant in estimating fluid accumulation amount than Inbody S10. To our knowledge, this is the first report on the use of body composition monitors to assess fluid status in Korean children receiving HD.
Body Composition ; Body Fluids ; Body Water ; Child ; Dialysis ; Edema ; Electric Impedance ; Humans ; Hypertension ; Methods* ; Renal Dialysis* ; Spectrum Analysis ; Weight Gain

Primary distal renal tubular acidosis (dRTA) caused by mutations of the SLC4A1 gene, which encodes for erythroid and kidney isoforms of anion exchanger, shows marked difference in inheritance patterns and clinical features in different parts of the world. While the disease shows autosomal dominant inheritance without any red cell morphological abnormalities in the temperate countries, it is almost invariably recessive, and often accompanies red cell morphological abnormalities or hemolytic anemia in the tropics, especially in Southeast Asia. Here, we report three patients with autosomal recessive (AR) dRTA, presenting with typical findings of failure to thrive and rickets, from two unrelated Lao families. The mutational analyses revealed that all three patients harbored the same homozygous SLC4A1 mutation, p.Gly701Asp. Adequate supplementation of alkali and potassium resulted in remarkable improvement of growth retardation and skeletal deformities of the patients. This is the first case report of Lao patients with AR dRTA caused by SLC4A1 mutations.
Acidosis, Renal Tubular* ; Alkalies ; Anemia, Hemolytic ; Asia, Southeastern ; Congenital Abnormalities ; Failure to Thrive ; Humans ; Inheritance Patterns ; Kidney ; Laos ; Potassium ; Protein Isoforms ; Rickets ; Wills